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早在1984年Hamazaki收集20例IgA肾病患者做了初步研究，治疗组接受鱼油治疗1年，肾功能维持稳定，而未接受鱼油的对照组，则显示血浆肌酐清除率的降低。 | [
{
"indices": [
20,
21,
22,
23,
24
],
"label": "dis",
"score": 1,
"text": "IgA肾病"
},
{
"indices": [
39,
40
],
"label": "dru",
"score": 1,
"text": "鱼油"
},
{
"indices": [
46
],
"label": "bod",
"score": 1,
"text": "肾"
},
{
"indices": [
58,
59
],
"label": "dru",
"score": 1,
"text": "鱼油"
},
{
"indices": [
68,
69,
70,
71,
72,
73,
74
],
"label": "ite",
"score": 1,
"text": "血浆肌酐清除率"
},
{
"indices": [
68,
69,
70,
71,
72,
73,
74,
75,
76,
77
],
"label": "sym",
"score": 1,
"text": "血浆肌酐清除率的降低"
}
] |
共收集55例病人，每日口服12g鱼油为治疗组，51例病人服橄榄油为对照组，所选病例中68%的基础血肌酐值增高，初始观察终点是血肌酐上升＞50%，结果为在治疗期间（2年），鱼油组仅6%的病人进展到观察终点，而对照组达33%，每年血肌酐的增高速率在治疗组为0.03mg/dl，对照组为0.14mg/dl。 | [
{
"indices": [
16,
17
],
"label": "dru",
"score": 1,
"text": "鱼油"
},
{
"indices": [
29,
30,
31
],
"label": "dru",
"score": 1,
"text": "橄榄油"
},
{
"indices": [
48,
49,
50
],
"label": "ite",
"score": 1,
"text": "血肌酐"
},
{
"indices": [
48,
49,
50,
51,
52,
53
],
"label": "sym",
"score": 1,
"text": "血肌酐值增高"
},
{
"indices": [
62,
63,
64
],
"label": "ite",
"score": 1,
"text": "血肌酐"
},
{
"indices": [
62,
63,
64,
65,
66,
67,
68,
69,
70
],
"label": "sym",
"score": 1,
"text": "血肌酐上升＞50%"
},
{
"indices": [
85,
86
],
"label": "dru",
"score": 1,
"text": "鱼油"
},
{
"indices": [
113,
114,
115
],
"label": "ite",
"score": 1,
"text": "血肌酐"
}
] |
4年后的终末期肾病发生率，对照组为40%，治疗组则为10%，结果有统计学显著意义，没有病人因不良反应而停止治疗。 | [
{
"indices": [
4,
5,
6,
7,
8
],
"label": "dis",
"score": 1,
"text": "终末期肾病"
}
] |
表明鱼油可减慢GFR的下降率。 | [
{
"indices": [
2,
3
],
"label": "dru",
"score": 1,
"text": "鱼油"
},
{
"indices": [
7,
8,
9
],
"label": "ite",
"score": 1,
"text": "GFR"
},
{
"indices": [
7,
8,
9,
10,
11,
12
],
"label": "sym",
"score": 1,
"text": "GFR的下降"
}
] |
该作者在1999年又报道了上述病例远期随访结果，表明早期并持续使用鱼油可明显延缓高危IgA肾病患者的肾衰竭出现时间。 | [
{
"indices": [
33,
34
],
"label": "dru",
"score": 1,
"text": "鱼油"
},
{
"indices": [
40,
41,
42,
43,
44,
45,
46
],
"label": "dis",
"score": 1,
"text": "高危IgA肾病"
},
{
"indices": [
50,
51,
52
],
"label": "dis",
"score": 1,
"text": "肾衰竭"
}
] |
（五）其他Copp最近组织了一个为期6年的前瞻多中心双盲随机对照研究，以探讨长效服用贝那普利（benazepril），0.2mg/（kg•d），对中等程度蛋白尿、肾功能较好的儿童和青年IgA肾病患者的治疗功效，试验于2004年已完成。 | [
{
"indices": [
42,
43,
44,
45
],
"label": "dru",
"score": 1,
"text": "贝那普利"
},
{
"indices": [
47,
48,
49,
50,
51,
52,
53,
54,
55,
56
],
"label": "dru",
"score": 1,
"text": "benazepril"
},
{
"indices": [
77,
78
],
"label": "bod",
"score": 1,
"text": "蛋白"
},
{
"indices": [
77,
78,
79
],
"label": "sym",
"score": 1,
"text": "蛋白尿"
},
{
"indices": [
79
],
"label": "bod",
"score": 1,
"text": "尿"
},
{
"indices": [
81
],
"label": "bod",
"score": 1,
"text": "肾"
},
{
"indices": [
92,
93,
94,
95,
96
],
"label": "dis",
"score": 1,
"text": "IgA肾病"
}
] |
以往有人采用苯妥英钠5mg/（kg•d）治疗IgA肾病，发现可降低血清中IgA及多聚IgA水平，且血尿发作次数减少，但循环免疫复合物未减低，且远期疗效不肯定，近年已很少使用。 | [
{
"indices": [
6,
7,
8,
9
],
"label": "dru",
"score": 1,
"text": "苯妥英钠"
},
{
"indices": [
22,
23,
24,
25,
26
],
"label": "dis",
"score": 1,
"text": "IgA肾病"
},
{
"indices": [
33,
34,
35,
36,
37,
38,
39,
40,
41,
42,
43,
44,
45,
46
],
"label": "ite",
"score": 1,
"text": "血清中IgA及多聚IgA水平"
},
{
"indices": [
49,
50
],
"label": "sym",
"score": 1,
"text": "血尿"
},
{
"indices": [
49
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
50
],
"label": "bod",
"score": 1,
"text": "尿"
},
{
"indices": [
59,
60,
61,
62,
63,
64,
65,
66,
67,
68
],
"label": "sym",
"score": 1,
"text": "循环免疫复合物未减低"
},
{
"indices": [
59,
60,
61,
62,
63,
64,
65
],
"label": "ite",
"score": 1,
"text": "循环免疫复合物"
}
] |
（六）透析及肾移植对终末期肾衰患者可行透析及移植治疗。 | [
{
"indices": [
3,
4
],
"label": "pro",
"score": 1,
"text": "透析"
},
{
"indices": [
6,
7,
8
],
"label": "pro",
"score": 1,
"text": "肾移植"
},
{
"indices": [
10,
11,
12,
13,
14
],
"label": "dis",
"score": 1,
"text": "终末期肾衰"
},
{
"indices": [
19,
20
],
"label": "pro",
"score": 1,
"text": "透析"
},
{
"indices": [
22,
23,
24,
25
],
"label": "pro",
"score": 1,
"text": "移植治疗"
}
] |
【预后】成人IgA肾病10年后约15%进展到终末肾功衰竭，20年后升至25%～30%。 | [
{
"indices": [
6,
7,
8,
9,
10
],
"label": "dis",
"score": 1,
"text": "IgA肾病"
},
{
"indices": [
22,
23,
24,
25,
26,
27
],
"label": "dis",
"score": 1,
"text": "终末肾功衰竭"
}
] |
儿童IgA肾病预后好于成人，Yoshikawa报道20年后10%进展到终末肾衰竭。 | [
{
"indices": [
2,
3,
4,
5,
6
],
"label": "dis",
"score": 1,
"text": "IgA肾病"
},
{
"indices": [
35,
36,
37,
38,
39
],
"label": "dis",
"score": 1,
"text": "终末肾衰竭"
}
] |
影响预后的因素很多，重度蛋白尿、高血压、肾小球硬化以及间质小管病变严重均是预后不良的指标；男性也易于进展；肉眼血尿与预后的关系尚存争议。 | [
{
"indices": [
10,
11,
12,
13,
14
],
"label": "sym",
"score": 1,
"text": "重度蛋白尿"
},
{
"indices": [
12,
13
],
"label": "bod",
"score": 1,
"text": "蛋白"
},
{
"indices": [
14
],
"label": "bod",
"score": 1,
"text": "尿"
},
{
"indices": [
16,
17,
18
],
"label": "dis",
"score": 1,
"text": "高血压"
},
{
"indices": [
20,
21,
22,
23,
24
],
"label": "dis",
"score": 1,
"text": "肾小球硬化"
},
{
"indices": [
27,
28,
29,
30,
31,
32
],
"label": "dis",
"score": 1,
"text": "间质小管病变"
},
{
"indices": [
53,
54,
55,
56
],
"label": "sym",
"score": 1,
"text": "肉眼血尿"
},
{
"indices": [
55
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
56
],
"label": "bod",
"score": 1,
"text": "尿"
}
] |
据报道，IgA肾病患者从肾功能正常起每年GFR的减低速度为1～3ml/min，而表现为肾病综合征的IgA肾病病人GFR递减率为9ml/min。 | [
{
"indices": [
4,
5,
6,
7,
8
],
"label": "dis",
"score": 1,
"text": "IgA肾病"
},
{
"indices": [
12,
13,
14
],
"label": "ite",
"score": 1,
"text": "肾功能"
},
{
"indices": [
20,
21,
22
],
"label": "ite",
"score": 1,
"text": "GFR"
},
{
"indices": [
43,
44,
45,
46,
47
],
"label": "dis",
"score": 1,
"text": "肾病综合征"
},
{
"indices": [
49,
50,
51,
52,
53
],
"label": "dis",
"score": 1,
"text": "IgA肾病"
},
{
"indices": [
56,
57,
58,
59,
60,
61
],
"label": "ite",
"score": 1,
"text": "GFR递减率"
},
{
"indices": [
56,
57,
58,
59,
60,
61,
62,
63,
64,
65,
66,
67,
68,
69
],
"label": "sym",
"score": 1,
"text": "GFR递减率为9ml/min"
}
] |
合并高血压时，GFR减低速度更是高达每年12ml/min，因此，控制血压和蛋白尿在IgA肾病治疗中至关重要。 | [
{
"indices": [
2,
3,
4
],
"label": "dis",
"score": 1,
"text": "高血压"
},
{
"indices": [
7,
8,
9
],
"label": "ite",
"score": 1,
"text": "GFR"
},
{
"indices": [
7,
8,
9,
10,
11,
12,
13,
14,
15,
16,
17,
18,
19,
20,
21,
22,
23,
24,
25,
26,
27
],
"label": "sym",
"score": 1,
"text": "GFR减低速度更是高达每年12ml/min"
},
{
"indices": [
37,
38,
39
],
"label": "sym",
"score": 1,
"text": "蛋白尿"
},
{
"indices": [
37,
38
],
"label": "bod",
"score": 1,
"text": "蛋白"
},
{
"indices": [
39
],
"label": "bod",
"score": 1,
"text": "尿"
},
{
"indices": [
41,
42,
43,
44,
45
],
"label": "dis",
"score": 1,
"text": "IgA肾病"
}
] |
第四节黏多糖病【概述】黏多糖病（mucopolysaccharidosis，MPS）是一组遗传性溶酶体贮积症，因降解各种黏多糖所需的溶酶体酶缺陷，造成不能完全降解的黏多糖在溶酶体中贮积，并有大量黏多糖从尿中排出。 | [
{
"indices": [
3,
4,
5,
6
],
"label": "dis",
"score": 1,
"text": "黏多糖病"
},
{
"indices": [
11,
12,
13,
14
],
"label": "dis",
"score": 1,
"text": "黏多糖病"
},
{
"indices": [
16,
17,
18,
19,
20,
21,
22,
23,
24,
25,
26,
27,
28,
29,
30,
31,
32,
33,
34,
35,
36
],
"label": "dis",
"score": 1,
"text": "mucopolysaccharidosis"
},
{
"indices": [
38,
39,
40
],
"label": "dis",
"score": 1,
"text": "MPS"
},
{
"indices": [
45,
46,
47,
48,
49,
50,
51,
52,
53
],
"label": "dis",
"score": 1,
"text": "遗传性溶酶体贮积症"
},
{
"indices": [
60,
61,
62
],
"label": "bod",
"score": 1,
"text": "黏多糖"
},
{
"indices": [
66,
67,
68,
69,
70,
71
],
"label": "sym",
"score": 1,
"text": "溶酶体酶缺陷"
},
{
"indices": [
66,
67,
68,
69
],
"label": "bod",
"score": 1,
"text": "溶酶体酶"
},
{
"indices": [
75,
76,
77,
78,
79,
80,
81,
82,
83,
84,
85,
86,
87,
88,
89,
90,
91
],
"label": "sym",
"score": 1,
"text": "不能完全降解的黏多糖在溶酶体中贮积"
},
{
"indices": [
82,
83,
84
],
"label": "bod",
"score": 1,
"text": "黏多糖"
},
{
"indices": [
86,
87,
88
],
"label": "bod",
"score": 1,
"text": "溶酶体"
},
{
"indices": [
95,
96,
97,
98,
99,
100,
101,
102,
103,
104
],
"label": "sym",
"score": 1,
"text": "大量黏多糖从尿中排出"
},
{
"indices": [
97,
98,
99
],
"label": "bod",
"score": 1,
"text": "黏多糖"
},
{
"indices": [
101
],
"label": "bod",
"score": 1,
"text": "尿"
}
] |
根据临床表现和不同的酶缺陷，可将MPS分为Ⅰ～Ⅶ型，除MPSⅡ型为X连锁隐性遗传外，其余均属常染色体隐性遗传。 | [
{
"indices": [
10,
11,
12
],
"label": "sym",
"score": 1,
"text": "酶缺陷"
},
{
"indices": [
10
],
"label": "bod",
"score": 1,
"text": "酶"
},
{
"indices": [
16,
17,
18
],
"label": "dis",
"score": 1,
"text": "MPS"
},
{
"indices": [
27,
28,
29,
30,
31
],
"label": "dis",
"score": 1,
"text": "MPSⅡ型"
},
{
"indices": [
46,
47,
48,
49
],
"label": "bod",
"score": 1,
"text": "常染色体"
}
] |
MPS各型之间存在明显的遗传异质性，我国以MPSⅡ型和Ⅰ型最为常见，症状最为典型。 | [
{
"indices": [
0,
1,
2
],
"label": "dis",
"score": 1,
"text": "MPS"
},
{
"indices": [
21,
22,
23,
24,
25
],
"label": "dis",
"score": 1,
"text": "MPSⅡ型"
}
] |
【病理生理和发病机制】黏多糖是结缔组织细胞间的主要成分，广泛存在于各种细胞内。 | [
{
"indices": [
11,
12,
13
],
"label": "bod",
"score": 1,
"text": "黏多糖"
},
{
"indices": [
15,
16,
17,
18,
19,
20,
21
],
"label": "bod",
"score": 1,
"text": "结缔组织细胞间"
},
{
"indices": [
35,
36,
37
],
"label": "bod",
"score": 1,
"text": "细胞内"
}
] |
黏多糖是带阴性电荷的多聚物，重要的黏多糖有硫酸皮肤素（dermatansulfate，DS）、硫酸肝素（heparansulfate，HS）、硫酸角质素（keratansulfate，KS）、硫酸软骨素（chondroitinsulfate，CS）及透明质酸（hyaluronicacid，HA）等，前3种是黏多糖病的主要病理性黏多糖。 | [
{
"indices": [
0,
1,
2
],
"label": "bod",
"score": 1,
"text": "黏多糖"
},
{
"indices": [
10,
11,
12
],
"label": "bod",
"score": 1,
"text": "多聚物"
},
{
"indices": [
17,
18,
19
],
"label": "bod",
"score": 1,
"text": "黏多糖"
},
{
"indices": [
21,
22,
23,
24,
25
],
"label": "bod",
"score": 1,
"text": "硫酸皮肤素"
},
{
"indices": [
27,
28,
29,
30,
31,
32,
33,
34,
35,
36,
37,
38,
39,
40,
41
],
"label": "bod",
"score": 1,
"text": "dermatansulfate"
},
{
"indices": [
43,
44
],
"label": "bod",
"score": 1,
"text": "DS"
},
{
"indices": [
47,
48,
49,
50
],
"label": "bod",
"score": 1,
"text": "硫酸肝素"
},
{
"indices": [
52,
53,
54,
55,
56,
57,
58,
59,
60,
61,
62,
63,
64,
65
],
"label": "bod",
"score": 1,
"text": "heparansulfate"
},
{
"indices": [
67,
68
],
"label": "bod",
"score": 1,
"text": "HS"
},
{
"indices": [
71,
72,
73,
74,
75
],
"label": "bod",
"score": 1,
"text": "硫酸角质素"
},
{
"indices": [
77,
78,
79,
80,
81,
82,
83,
84,
85,
86,
87,
88,
89,
90
],
"label": "bod",
"score": 1,
"text": "keratansulfate"
},
{
"indices": [
92,
93
],
"label": "bod",
"score": 1,
"text": "KS"
},
{
"indices": [
96,
97,
98,
99,
100
],
"label": "bod",
"score": 1,
"text": "硫酸软骨素"
},
{
"indices": [
102,
103,
104,
105,
106,
107,
108,
109,
110,
111,
112,
113,
114,
115,
116,
117,
118,
119
],
"label": "bod",
"score": 1,
"text": "chondroitinsulfate"
},
{
"indices": [
121,
122
],
"label": "bod",
"score": 1,
"text": "CS"
},
{
"indices": [
125,
126,
127,
128
],
"label": "bod",
"score": 1,
"text": "透明质酸"
},
{
"indices": [
130,
131,
132,
133,
134,
135,
136,
137,
138,
139,
140,
141,
142,
143
],
"label": "bod",
"score": 1,
"text": "hyaluronicacid"
},
{
"indices": [
145,
146
],
"label": "bod",
"score": 1,
"text": "HA"
},
{
"indices": [
154,
155,
156,
157
],
"label": "dis",
"score": 1,
"text": "黏多糖病"
},
{
"indices": [
164,
165,
166
],
"label": "bod",
"score": 1,
"text": "黏多糖"
}
] |
这些多糖都是直链杂多糖，由不同的双糖单位连接而成，包括N-乙酰氨基己糖和糖醛酸或者己糖组成。 | [
{
"indices": [
2,
3
],
"label": "bod",
"score": 1,
"text": "多糖"
},
{
"indices": [
6,
7,
8,
9,
10
],
"label": "bod",
"score": 1,
"text": "直链杂多糖"
},
{
"indices": [
16,
17
],
"label": "bod",
"score": 1,
"text": "双糖"
},
{
"indices": [
27,
28,
29,
30,
31,
32,
33,
34
],
"label": "bod",
"score": 1,
"text": "N-乙酰氨基己糖"
},
{
"indices": [
36,
37,
38
],
"label": "bod",
"score": 1,
"text": "糖醛酸"
},
{
"indices": [
41,
42
],
"label": "bod",
"score": 1,
"text": "己糖"
}
] |
每个氨基葡糖聚糖直链约由50～100个分子组成，许多直链又同时与一条蛋白质肽链结合，形成更大分子量的聚合体。 | [
{
"indices": [
2,
3,
4,
5,
6,
7,
8,
9
],
"label": "bod",
"score": 1,
"text": "氨基葡糖聚糖直链"
},
{
"indices": [
26,
27
],
"label": "bod",
"score": 1,
"text": "直链"
},
{
"indices": [
34,
35,
36,
37,
38
],
"label": "bod",
"score": 1,
"text": "蛋白质肽链"
},
{
"indices": [
50,
51,
52
],
"label": "bod",
"score": 1,
"text": "聚合体"
}
] |
结缔组织便是由这类聚合体所形成。 | [
{
"indices": [
0,
1,
2,
3
],
"label": "bod",
"score": 1,
"text": "结缔组织"
},
{
"indices": [
9,
10,
11
],
"label": "bod",
"score": 1,
"text": "聚合体"
}
] |
这种多糖链的降解必须在溶酶体中进行。 | [
{
"indices": [
2,
3,
4
],
"label": "bod",
"score": 1,
"text": "多糖链"
},
{
"indices": [
11,
12,
13
],
"label": "bod",
"score": 1,
"text": "溶酶体"
}
] |
正常溶酶体中含有许多种糖苷酶、硫酸脂酶和乙酸转移酶，不同的黏多糖需不同的溶酶体酶进行降解。 | [
{
"indices": [
2,
3,
4
],
"label": "bod",
"score": 1,
"text": "溶酶体"
},
{
"indices": [
11,
12,
13
],
"label": "bod",
"score": 1,
"text": "糖苷酶"
},
{
"indices": [
15,
16,
17,
18
],
"label": "bod",
"score": 1,
"text": "硫酸脂酶"
},
{
"indices": [
20,
21,
22,
23,
24
],
"label": "bod",
"score": 1,
"text": "乙酸转移酶"
},
{
"indices": [
29,
30,
31
],
"label": "bod",
"score": 1,
"text": "黏多糖"
},
{
"indices": [
36,
37,
38,
39
],
"label": "bod",
"score": 1,
"text": "溶酶体酶"
}
] |
已知有10余种溶酶体酶参与其降解过程。 | [
{
"indices": [
7,
8,
9,
10
],
"label": "bod",
"score": 1,
"text": "溶酶体酶"
}
] |
其中任何一种酶的缺陷都会造成氨基葡糖聚糖链分解障碍，积聚在溶酶体内，尿中排出增加。 | [
{
"indices": [
6
],
"label": "bod",
"score": 1,
"text": "酶"
},
{
"indices": [
6,
7,
8,
9
],
"label": "sym",
"score": 1,
"text": "酶的缺陷"
},
{
"indices": [
14,
15,
16,
17,
18,
19,
20,
21,
22,
23,
24,
25,
26,
27,
28,
29,
30,
31,
32,
33,
34,
35,
36,
37,
38,
39
],
"label": "sym",
"score": 1,
"text": "氨基葡糖聚糖链分解障碍，积聚在溶酶体内，尿中排出增加"
},
{
"indices": [
14,
15,
16,
17,
18,
19,
20
],
"label": "bod",
"score": 1,
"text": "氨基葡糖聚糖链"
},
{
"indices": [
29,
30,
31
],
"label": "bod",
"score": 1,
"text": "溶酶体"
},
{
"indices": [
34
],
"label": "bod",
"score": 1,
"text": "尿"
}
] |
各型黏多糖病的酶缺陷（表14-14）。 | [
{
"indices": [
2,
3,
4,
5
],
"label": "dis",
"score": 1,
"text": "黏多糖病"
},
{
"indices": [
7,
8,
9
],
"label": "sym",
"score": 1,
"text": "酶缺陷"
},
{
"indices": [
7
],
"label": "bod",
"score": 1,
"text": "酶"
}
] |
【临床表现】黏多糖是结缔组织的主要成分，因此黏多糖代谢异常累及全身器官，患者一般出生时正常，随年龄增大，临床症状逐渐明显，其共同特征是在出生一年左右出现生长落后。 | [
{
"indices": [
6,
7,
8
],
"label": "bod",
"score": 1,
"text": "黏多糖"
},
{
"indices": [
10,
11,
12,
13
],
"label": "bod",
"score": 1,
"text": "结缔组织"
},
{
"indices": [
22,
23,
24,
25,
26,
27,
28,
29,
30,
31,
32,
33,
34
],
"label": "sym",
"score": 1,
"text": "黏多糖代谢异常累及全身器官"
},
{
"indices": [
22,
23,
24
],
"label": "bod",
"score": 1,
"text": "黏多糖"
},
{
"indices": [
31,
32,
33,
34
],
"label": "bod",
"score": 1,
"text": "全身器官"
},
{
"indices": [
67,
68,
69,
70,
71,
72,
73,
74,
75,
76,
77,
78,
79
],
"label": "sym",
"score": 1,
"text": "在出生一年左右出现生长落后"
}
] |
关节进行性畸变，有爪形手、椎体发育不良呈扁平，短颈，鸡胸，肋下缘外突，脊柱后凸或者侧凸，早期出现肝、脾肿大，耳聋，心脏增大等。 | [
{
"indices": [
0,
1,
2,
3,
4,
5,
6
],
"label": "dis",
"score": 1,
"text": "关节进行性畸变"
},
{
"indices": [
9,
10,
11
],
"label": "sym",
"score": 1,
"text": "爪形手"
},
{
"indices": [
11
],
"label": "bod",
"score": 1,
"text": "手"
},
{
"indices": [
13,
14,
15,
16,
17,
18
],
"label": "dis",
"score": 1,
"text": "椎体发育不良"
},
{
"indices": [
20,
21
],
"label": "sym",
"score": 1,
"text": "扁平"
},
{
"indices": [
23,
24
],
"label": "sym",
"score": 1,
"text": "短颈"
},
{
"indices": [
24
],
"label": "bod",
"score": 1,
"text": "颈"
},
{
"indices": [
26,
27
],
"label": "sym",
"score": 1,
"text": "鸡胸"
},
{
"indices": [
27
],
"label": "bod",
"score": 1,
"text": "胸"
},
{
"indices": [
29,
30,
31,
32,
33
],
"label": "sym",
"score": 1,
"text": "肋下缘外突"
},
{
"indices": [
29,
30,
31
],
"label": "bod",
"score": 1,
"text": "肋下缘"
},
{
"indices": [
35,
36,
37,
38,
39,
40,
41,
42
],
"label": "sym",
"score": 1,
"text": "脊柱后凸或者侧凸"
},
{
"indices": [
35,
36
],
"label": "bod",
"score": 1,
"text": "脊柱"
},
{
"indices": [
48,
49,
50,
51,
52
],
"label": "sym",
"score": 1,
"text": "肝、脾肿大"
},
{
"indices": [
48
],
"label": "bod",
"score": 1,
"text": "肝"
},
{
"indices": [
50
],
"label": "bod",
"score": 1,
"text": "脾"
},
{
"indices": [
54,
55
],
"label": "sym",
"score": 1,
"text": "耳聋"
},
{
"indices": [
54
],
"label": "bod",
"score": 1,
"text": "耳"
},
{
"indices": [
57,
58,
59,
60
],
"label": "sym",
"score": 1,
"text": "心脏增大"
},
{
"indices": [
57,
58
],
"label": "bod",
"score": 1,
"text": "心脏"
}
] |
表14-19黏多糖病的分型、酶的缺陷和累积的代谢产物目前对引起黏多糖病的酶缺陷都已鉴定，共分为6大型。 | [
{
"indices": [
6,
7,
8,
9
],
"label": "dis",
"score": 1,
"text": "黏多糖病"
},
{
"indices": [
14
],
"label": "bod",
"score": 1,
"text": "酶"
},
{
"indices": [
14,
15,
16,
17
],
"label": "sym",
"score": 1,
"text": "酶的缺陷"
},
{
"indices": [
19,
20,
21,
22,
23,
24,
25
],
"label": "sym",
"score": 1,
"text": "累积的代谢产物"
},
{
"indices": [
22,
23,
24,
25
],
"label": "bod",
"score": 1,
"text": "代谢产物"
},
{
"indices": [
31,
32,
33,
34
],
"label": "dis",
"score": 1,
"text": "黏多糖病"
},
{
"indices": [
36,
37,
38
],
"label": "sym",
"score": 1,
"text": "酶缺陷"
},
{
"indices": [
36
],
"label": "bod",
"score": 1,
"text": "酶"
}
] |
1.黏多糖病I-H型（Hurler综合征）本型是最严重的一种类型，常在10岁左右死亡，病因为缺乏α-L-艾杜糖醛酸苷酶，导致硫酸皮肤素和硫酸肝素在体内积聚，全身脏器如角膜、软骨、骨骼、皮肤、心肌内膜及血管结缔组织等均受累。 | [
{
"indices": [
2,
3,
4,
5,
6,
7,
8,
9
],
"label": "dis",
"score": 1,
"text": "黏多糖病I-H型"
},
{
"indices": [
11,
12,
13,
14,
15,
16,
17,
18,
19
],
"label": "dis",
"score": 1,
"text": "Hurler综合征"
},
{
"indices": [
33,
34,
35,
36,
37,
38,
39,
40,
41
],
"label": "sym",
"score": 1,
"text": "常在10岁左右死亡"
},
{
"indices": [
46,
47,
48,
49,
50,
51,
52,
53,
54,
55,
56,
57,
58
],
"label": "sym",
"score": 1,
"text": "缺乏α-L-艾杜糖醛酸苷酶"
},
{
"indices": [
48,
49,
50,
51,
52,
53,
54,
55,
56,
57,
58
],
"label": "bod",
"score": 1,
"text": "α-L-艾杜糖醛酸苷酶"
},
{
"indices": [
62,
63,
64,
65,
66
],
"label": "bod",
"score": 1,
"text": "硫酸皮肤素"
},
{
"indices": [
62,
63,
64,
65,
66,
67,
68,
69,
70,
71,
72,
73,
74,
75,
76
],
"label": "sym",
"score": 1,
"text": "硫酸皮肤素和硫酸肝素在体内积聚"
},
{
"indices": [
68,
69,
70,
71
],
"label": "bod",
"score": 1,
"text": "硫酸肝素"
},
{
"indices": [
78,
79,
80,
81
],
"label": "bod",
"score": 1,
"text": "全身脏器"
},
{
"indices": [
78,
79,
80,
81,
82,
83,
84,
85,
86,
87,
88,
89,
90,
91,
92,
93,
94,
95,
96,
97,
98,
99,
100,
101,
102,
103,
104,
105,
106,
107,
108,
109
],
"label": "sym",
"score": 1,
"text": "全身脏器如角膜、软骨、骨骼、皮肤、心肌内膜及血管结缔组织等均受累"
},
{
"indices": [
83,
84
],
"label": "bod",
"score": 1,
"text": "角膜"
},
{
"indices": [
86,
87
],
"label": "bod",
"score": 1,
"text": "软骨"
},
{
"indices": [
89,
90
],
"label": "bod",
"score": 1,
"text": "骨骼"
},
{
"indices": [
92,
93
],
"label": "bod",
"score": 1,
"text": "皮肤"
},
{
"indices": [
95,
96,
97,
98
],
"label": "bod",
"score": 1,
"text": "心肌内膜"
},
{
"indices": [
100,
101,
102,
103,
104,
105
],
"label": "bod",
"score": 1,
"text": "血管结缔组织"
}
] |
末梢血白细胞、淋巴细胞可见到异染的大小不等，形态不同的深染颗粒，有时呈空泡状，尿排出大量酸性黏多糖（（＞100mg/24h，正常为3～25mg/24h）。 | [
{
"indices": [
0,
1,
2,
3,
4,
5,
6,
7,
8,
9,
10,
11,
12,
13,
14,
15,
16,
17,
18,
19,
20,
21,
22,
23,
24,
25,
26,
27,
28,
29,
30,
31,
32,
33,
34,
35,
36,
37
],
"label": "sym",
"score": 1,
"text": "末梢血白细胞、淋巴细胞可见到异染的大小不等，形态不同的深染颗粒，有时呈空泡状"
},
{
"indices": [
0,
1,
2,
3,
4,
5
],
"label": "bod",
"score": 1,
"text": "末梢血白细胞"
},
{
"indices": [
7,
8,
9,
10
],
"label": "bod",
"score": 1,
"text": "淋巴细胞"
},
{
"indices": [
39,
40,
41,
42,
43,
44,
45,
46,
47,
48
],
"label": "sym",
"score": 1,
"text": "尿排出大量酸性黏多糖"
},
{
"indices": [
39
],
"label": "bod",
"score": 1,
"text": "尿"
},
{
"indices": [
44,
45,
46,
47,
48
],
"label": "bod",
"score": 1,
"text": "酸性黏多糖"
}
] |
本病是常染色体隐性遗传病，α-L-艾杜糖醛酸苷酶基因已被鉴定，位于染色体4p16.3，有14个外显子，并在其中发现了不少基因突变。 | [
{
"indices": [
3,
4,
5,
6,
7,
8,
9,
10,
11
],
"label": "dis",
"score": 1,
"text": "常染色体隐性遗传病"
},
{
"indices": [
13,
14,
15,
16,
17,
18,
19,
20,
21,
22,
23,
24,
25
],
"label": "bod",
"score": 1,
"text": "α-L-艾杜糖醛酸苷酶基因"
},
{
"indices": [
33,
34,
35,
36,
37,
38,
39,
40,
41
],
"label": "bod",
"score": 1,
"text": "染色体4p16.3"
},
{
"indices": [
60,
61,
62,
63
],
"label": "sym",
"score": 1,
"text": "基因突变"
},
{
"indices": [
60,
61
],
"label": "bod",
"score": 1,
"text": "基因"
}
] |
临床表型与基因型分析发现，α-L-艾杜糖醛酸苷酶基因突变导致酶活性严重缺乏者称为黏多糖病I-H型，如在编码区70，或402出现终止密码。 | [
{
"indices": [
0,
1,
2,
3,
4,
5,
6,
7,
8,
9
],
"label": "pro",
"score": 1,
"text": "临床表型与基因型分析"
},
{
"indices": [
13,
14,
15,
16,
17,
18,
19,
20,
21,
22,
23,
24,
25,
26,
27
],
"label": "sym",
"score": 1,
"text": "α-L-艾杜糖醛酸苷酶基因突变"
},
{
"indices": [
13,
14,
15,
16,
17,
18,
19,
20,
21,
22,
23
],
"label": "bod",
"score": 1,
"text": "α-L-艾杜糖醛酸苷酶"
},
{
"indices": [
30,
31,
32,
33,
34,
35,
36
],
"label": "sym",
"score": 1,
"text": "酶活性严重缺乏"
},
{
"indices": [
30,
31,
32
],
"label": "ite",
"score": 1,
"text": "酶活性"
},
{
"indices": [
40,
41,
42,
43,
44,
45,
46,
47
],
"label": "dis",
"score": 1,
"text": "黏多糖病I-H型"
},
{
"indices": [
50,
51,
52,
53,
54,
55,
56,
57,
58,
59,
60,
61,
62,
63,
64,
65,
66
],
"label": "sym",
"score": 1,
"text": "在编码区70，或402出现终止密码"
}
] |
基因突变导致酶活性中度或轻度下降者，在临床上分类为黏多糖病I-S型。 | [
{
"indices": [
0,
1,
2,
3
],
"label": "sym",
"score": 1,
"text": "基因突变"
},
{
"indices": [
0,
1
],
"label": "bod",
"score": 1,
"text": "基因"
},
{
"indices": [
6,
7,
8
],
"label": "ite",
"score": 1,
"text": "酶活性"
},
{
"indices": [
6,
7,
8,
9,
10,
11,
12,
13,
14,
15
],
"label": "sym",
"score": 1,
"text": "酶活性中度或轻度下降"
},
{
"indices": [
25,
26,
27,
28,
29,
30,
31,
32
],
"label": "dis",
"score": 1,
"text": "黏多糖病I-S型"
}
] |
2.黏多糖病I-S型（Scheie综合征）原先分类为黏多糖病V型，属中等度严重类型黏多糖病，遗传类型和致病基因同黏多糖病I-H型。 | [
{
"indices": [
2,
3,
4,
5,
6,
7,
8,
9
],
"label": "dis",
"score": 1,
"text": "黏多糖病I-S型"
},
{
"indices": [
11,
12,
13,
14,
15,
16,
17,
18,
19
],
"label": "dis",
"score": 1,
"text": "Scheie综合征"
},
{
"indices": [
26,
27,
28,
29,
30,
31
],
"label": "dis",
"score": 1,
"text": "黏多糖病V型"
},
{
"indices": [
34,
35,
36,
37,
38,
39,
40,
41,
42,
43,
44
],
"label": "dis",
"score": 1,
"text": "中等度严重类型黏多糖病"
},
{
"indices": [
56,
57,
58,
59,
60,
61,
62,
63
],
"label": "dis",
"score": 1,
"text": "黏多糖病I-H型"
}
] |
3.黏多糖病Ⅱ型（Hunter综合征）临床重型与黏多糖I-H型相似，在2～6岁起病，有特殊面容和骨骼畸形，但脊椎无鸟嘴样畸形。 | [
{
"indices": [
2,
3,
4,
5,
6,
7
],
"label": "dis",
"score": 1,
"text": "黏多糖病Ⅱ型"
},
{
"indices": [
9,
10,
11,
12,
13,
14,
15,
16,
17
],
"label": "dis",
"score": 1,
"text": "Hunter综合征"
},
{
"indices": [
24,
25,
26,
27,
28,
29,
30
],
"label": "dis",
"score": 1,
"text": "黏多糖I-H型"
},
{
"indices": [
34,
35,
36,
37,
38,
39,
40
],
"label": "sym",
"score": 1,
"text": "在2～6岁起病"
},
{
"indices": [
42,
43,
44,
45,
46
],
"label": "sym",
"score": 1,
"text": "有特殊面容"
},
{
"indices": [
45,
46
],
"label": "bod",
"score": 1,
"text": "面容"
},
{
"indices": [
48,
49,
50,
51
],
"label": "dis",
"score": 1,
"text": "骨骼畸形"
},
{
"indices": [
54,
55
],
"label": "bod",
"score": 1,
"text": "脊椎"
},
{
"indices": [
57,
58,
59,
60,
61
],
"label": "dis",
"score": 1,
"text": "鸟嘴样畸形"
}
] |
无角膜混浊。 | [
{
"indices": [
1,
2,
3,
4
],
"label": "sym",
"score": 1,
"text": "角膜混浊"
},
{
"indices": [
1,
2
],
"label": "bod",
"score": 1,
"text": "角膜"
}
] |
本型为X连锁隐性遗传，病因是艾杜糖醛酸硫酸酯酶缺陷，使硫酸皮肤素和硫酸肝素代谢障碍。 | [
{
"indices": [
14,
15,
16,
17,
18,
19,
20,
21,
22
],
"label": "bod",
"score": 1,
"text": "艾杜糖醛酸硫酸酯酶"
},
{
"indices": [
14,
15,
16,
17,
18,
19,
20,
21,
22,
23,
24
],
"label": "sym",
"score": 1,
"text": "艾杜糖醛酸硫酸酯酶缺陷"
},
{
"indices": [
27,
28,
29,
30,
31
],
"label": "bod",
"score": 1,
"text": "硫酸皮肤素"
},
{
"indices": [
27,
28,
29,
30,
31,
32,
33,
34,
35,
36,
37,
38,
39,
40
],
"label": "sym",
"score": 1,
"text": "硫酸皮肤素和硫酸肝素代谢障碍"
},
{
"indices": [
33,
34,
35,
36
],
"label": "bod",
"score": 1,
"text": "硫酸肝素"
}
] |
致病基因已克隆，位于染色体Xq28区，在脆性X综合征区域附近，有9个外显子，基因分析发现较多病人有大片段缺失，其他形式有点突变、小片段缺失或插入。 | [
{
"indices": [
2,
3
],
"label": "bod",
"score": 1,
"text": "基因"
},
{
"indices": [
10,
11,
12,
13,
14,
15,
16,
17
],
"label": "bod",
"score": 1,
"text": "染色体Xq28区"
},
{
"indices": [
20,
21,
22,
23,
24,
25
],
"label": "dis",
"score": 1,
"text": "脆性X综合征"
},
{
"indices": [
38,
39,
40,
41
],
"label": "pro",
"score": 1,
"text": "基因分析"
},
{
"indices": [
44,
45,
46,
47,
48,
49,
50,
51,
52,
53,
54,
55,
56,
57,
58,
59,
60,
61,
62,
63,
64,
65,
66,
67,
68,
69,
70,
71
],
"label": "sym",
"score": 1,
"text": "较多病人有大片段缺失，其他形式有点突变、小片段缺失或插入"
}
] |
有严重病变，如在核苷酸1129位上插入22个碱基或有基因缺失者病情较重，基因有点突变者相对属轻型临床表现。 | [
{
"indices": [
8,
9,
10,
11,
12,
13,
14,
15
],
"label": "bod",
"score": 1,
"text": "核苷酸1129位"
},
{
"indices": [
22,
23
],
"label": "bod",
"score": 1,
"text": "碱基"
},
{
"indices": [
26,
27,
28,
29
],
"label": "sym",
"score": 1,
"text": "基因缺失"
},
{
"indices": [
26,
27
],
"label": "bod",
"score": 1,
"text": "基因"
},
{
"indices": [
36,
37,
38,
39,
40,
41
],
"label": "sym",
"score": 1,
"text": "基因有点突变"
},
{
"indices": [
36,
37
],
"label": "bod",
"score": 1,
"text": "基因"
}
] |
4.黏多糖病Ⅲ型（Sanfilippo综合征）临床可分为4种亚型，分别由4种不同的酶缺陷所引起。 | [
{
"indices": [
2,
3,
4,
5,
6,
7
],
"label": "dis",
"score": 1,
"text": "黏多糖病Ⅲ型"
},
{
"indices": [
9,
10,
11,
12,
13,
14,
15,
16,
17,
18,
19,
20,
21
],
"label": "dis",
"score": 1,
"text": "Sanfilippo综合征"
},
{
"indices": [
41,
42,
43
],
"label": "sym",
"score": 1,
"text": "酶缺陷"
},
{
"indices": [
41
],
"label": "bod",
"score": 1,
"text": "酶"
}
] |
上述4种酶都是硫酸肝素降解所需要的酶，因此，当这些酶缺乏时均引起硫酸肝素在体内积聚，同时尿中排出量增加。 | [
{
"indices": [
4
],
"label": "bod",
"score": 1,
"text": "酶"
},
{
"indices": [
7,
8,
9,
10
],
"label": "bod",
"score": 1,
"text": "硫酸肝素"
},
{
"indices": [
17
],
"label": "bod",
"score": 1,
"text": "酶"
},
{
"indices": [
25,
26,
27
],
"label": "sym",
"score": 1,
"text": "酶缺乏"
},
{
"indices": [
25
],
"label": "bod",
"score": 1,
"text": "酶"
},
{
"indices": [
32,
33,
34,
35
],
"label": "bod",
"score": 1,
"text": "硫酸肝素"
},
{
"indices": [
32,
33,
34,
35,
36,
37,
38,
39,
40
],
"label": "sym",
"score": 1,
"text": "硫酸肝素在体内积聚"
},
{
"indices": [
44
],
"label": "bod",
"score": 1,
"text": "尿"
},
{
"indices": [
44,
45,
46,
47,
48,
49,
50
],
"label": "sym",
"score": 1,
"text": "尿中排出量增加"
}
] |
本病4型均为常染色体隐性遗传性疾病，导致硫酸肝素在体内积聚。 | [
{
"indices": [
6,
7,
8,
9,
10,
11,
12,
13,
14,
15,
16
],
"label": "dis",
"score": 1,
"text": "常染色体隐性遗传性疾病"
},
{
"indices": [
20,
21,
22,
23
],
"label": "bod",
"score": 1,
"text": "硫酸肝素"
},
{
"indices": [
20,
21,
22,
23,
24,
25,
26,
27,
28
],
"label": "sym",
"score": 1,
"text": "硫酸肝素在体内积聚"
}
] |
ⅢD型的致病基因葡糖胺-6-硫酸酯酶已克隆，位于染色体12q14。 | [
{
"indices": [
8,
9,
10,
11,
12,
13,
14,
15,
16,
17
],
"label": "bod",
"score": 1,
"text": "葡糖胺-6-硫酸酯酶"
},
{
"indices": [
24,
25,
26,
27,
28,
29,
30,
31
],
"label": "bod",
"score": 1,
"text": "染色体12q14"
}
] |
5.黏多糖病Ⅳ型（Morquio综合征）临床特征与黏多糖病I-H型相似，但无智能障碍。 | [
{
"indices": [
2,
3,
4,
5,
6,
7
],
"label": "dis",
"score": 1,
"text": "黏多糖病Ⅳ型"
},
{
"indices": [
9,
10,
11,
12,
13,
14,
15,
16,
17,
18
],
"label": "dis",
"score": 1,
"text": "Morquio综合征"
},
{
"indices": [
25,
26,
27,
28,
29,
30,
31,
32
],
"label": "dis",
"score": 1,
"text": "黏多糖病I-H型"
},
{
"indices": [
38,
39,
40,
41
],
"label": "sym",
"score": 1,
"text": "智能障碍"
}
] |
两种亚型都属常染色体隐性遗传性疾病。 | [
{
"indices": [
6,
7,
8,
9,
10,
11,
12,
13,
14,
15,
16
],
"label": "dis",
"score": 1,
"text": "常染色体隐性遗传性疾病"
}
] |
N-乙酰半乳糖胺-6-硫酸酯酶的全长cDNA已克隆，基因定位于染色体16q24.3，并在此基因上发现了一些突变位点。 | [
{
"indices": [
0,
1,
2,
3,
4,
5,
6,
7,
8,
9,
10,
11,
12,
13,
14
],
"label": "bod",
"score": 1,
"text": "N-乙酰半乳糖胺-6-硫酸酯酶"
},
{
"indices": [
18,
19,
20,
21
],
"label": "bod",
"score": 1,
"text": "cDNA"
},
{
"indices": [
26,
27
],
"label": "bod",
"score": 1,
"text": "基因"
},
{
"indices": [
31,
32,
33,
34,
35,
36,
37,
38,
39,
40
],
"label": "bod",
"score": 1,
"text": "染色体16q24.3"
},
{
"indices": [
45,
46
],
"label": "bod",
"score": 1,
"text": "基因"
},
{
"indices": [
53,
54
],
"label": "sym",
"score": 1,
"text": "突变"
}
] |
β-半乳糖酶基因也已克隆，定位于染色体3q21.33，并找到了突变位点。 | [
{
"indices": [
0,
1,
2,
3,
4,
5,
6,
7
],
"label": "bod",
"score": 1,
"text": "β-半乳糖酶基因"
},
{
"indices": [
16,
17,
18,
19,
20,
21,
22,
23,
24,
25
],
"label": "bod",
"score": 1,
"text": "染色体3q21.33"
},
{
"indices": [
31,
32
],
"label": "sym",
"score": 1,
"text": "突变"
}
] |
6.黏多糖病Ⅵ型（Maroteaux-Lamy综合征）临床表现同黏多糖病I-H型相似，但无智能落后。 | [
{
"indices": [
2,
3,
4,
5,
6,
7
],
"label": "dis",
"score": 1,
"text": "黏多糖病Ⅵ型"
},
{
"indices": [
9,
10,
11,
12,
13,
14,
15,
16,
17,
18,
19,
20,
21,
22,
23,
24,
25
],
"label": "dis",
"score": 1,
"text": "Maroteaux-Lamy综合征"
},
{
"indices": [
32,
33,
34,
35,
36,
37,
38,
39
],
"label": "dis",
"score": 1,
"text": "黏多糖病I-H型"
},
{
"indices": [
45,
46,
47,
48
],
"label": "sym",
"score": 1,
"text": "智能落后"
}
] |
尿中排出大量硫酸皮肤素，致病基因为芳基硫酸酯酶B，基因定位于染色体5q13-13q14，属常染色体隐性遗传性疾病。 | [
{
"indices": [
0,
1,
2,
3,
4,
5,
6,
7,
8,
9,
10
],
"label": "sym",
"score": 1,
"text": "尿中排出大量硫酸皮肤素"
},
{
"indices": [
0
],
"label": "bod",
"score": 1,
"text": "尿"
},
{
"indices": [
6,
7,
8,
9,
10
],
"label": "bod",
"score": 1,
"text": "硫酸皮肤素"
},
{
"indices": [
12,
13,
14,
15
],
"label": "bod",
"score": 1,
"text": "致病基因"
},
{
"indices": [
17,
18,
19,
20,
21,
22,
23
],
"label": "bod",
"score": 1,
"text": "芳基硫酸酯酶B"
},
{
"indices": [
25,
26,
27,
28
],
"label": "pro",
"score": 1,
"text": "基因定位"
},
{
"indices": [
30,
31,
32,
33,
34,
35,
36,
37,
38,
39,
40,
41,
42
],
"label": "bod",
"score": 1,
"text": "染色体5q13-13q14"
},
{
"indices": [
45,
46,
47,
48,
49,
50,
51,
52,
53,
54,
55
],
"label": "dis",
"score": 1,
"text": "常染色体隐性遗传性疾病"
}
] |
7.黏多糖病Ⅶ型临床表现同黏多糖病I-H型，但个体轻重程度不一，变异较大，轻者可无智能落后，本型为常染色体隐性遗传性疾病，因β-葡萄糖醛酸酶缺乏，导致4/6硫酸软骨素在体内沉积。 | [
{
"indices": [
2,
3,
4,
5,
6,
7
],
"label": "dis",
"score": 1,
"text": "黏多糖病Ⅶ型"
},
{
"indices": [
13,
14,
15,
16,
17,
18,
19,
20
],
"label": "dis",
"score": 1,
"text": "黏多糖病I-H型"
},
{
"indices": [
23,
24,
25,
26,
27,
28,
29,
30,
31,
32,
33,
34,
35
],
"label": "sym",
"score": 1,
"text": "个体轻重程度不一，变异较大"
},
{
"indices": [
41,
42,
43,
44
],
"label": "sym",
"score": 1,
"text": "智能落后"
},
{
"indices": [
49,
50,
51,
52,
53,
54,
55,
56,
57,
58,
59
],
"label": "dis",
"score": 1,
"text": "常染色体隐性遗传性疾病"
},
{
"indices": [
62,
63,
64,
65,
66,
67,
68,
69,
70,
71
],
"label": "sym",
"score": 1,
"text": "β-葡萄糖醛酸酶缺乏"
},
{
"indices": [
62,
63,
64,
65,
66,
67,
68,
69
],
"label": "ite",
"score": 1,
"text": "β-葡萄糖醛酸酶"
},
{
"indices": [
78,
79,
80,
81,
82
],
"label": "bod",
"score": 1,
"text": "硫酸软骨素"
},
{
"indices": [
78,
79,
80,
81,
82,
83,
84,
85,
86,
87
],
"label": "sym",
"score": 1,
"text": "硫酸软骨素在体内沉积"
}
] |
基因定位于染色体7q21.11，有12个外显子。 | [
{
"indices": [
0,
1,
2,
3
],
"label": "pro",
"score": 1,
"text": "基因定位"
},
{
"indices": [
5,
6,
7,
8,
9,
10,
11,
12,
13,
14
],
"label": "bod",
"score": 1,
"text": "染色体7q21.11"
}
] |
【实验室检查】1.尿黏多糖测定通常用甲苯胺蓝法做定性试验，患者尿液呈阳性反应。 | [
{
"indices": [
9,
10,
11,
12,
13,
14
],
"label": "ite",
"score": 1,
"text": "尿黏多糖测定"
},
{
"indices": [
18,
19,
20,
21,
22
],
"label": "pro",
"score": 1,
"text": "甲苯胺蓝法"
},
{
"indices": [
24,
25,
26,
27
],
"label": "pro",
"score": 1,
"text": "定性试验"
},
{
"indices": [
31,
32,
33,
34,
35,
36,
37
],
"label": "sym",
"score": 1,
"text": "尿液呈阳性反应"
},
{
"indices": [
31,
32
],
"label": "bod",
"score": 1,
"text": "尿液"
}
] |
2.骨骼X线检查骨质较疏松，骨皮质变薄，颅骨增大蝶鞍增大后凸或侧凸，椎体呈楔形或扁平，胸、腰椎体前下缘呈鱼唇样前突或呈鸟嘴突肋骨脊柱端细小胸骨端增宽飘带状，掌骨短粗，基底变尖，指骨远端窄圆，腕骨骨化成熟延迟。 | [
{
"indices": [
2,
3,
4,
5,
6,
7
],
"label": "pro",
"score": 1,
"text": "骨骼X线检查"
},
{
"indices": [
2,
3,
4,
5,
6,
7,
8,
9,
10,
11,
12
],
"label": "sym",
"score": 1,
"text": "骨骼X线检查骨质较疏松"
},
{
"indices": [
8,
9
],
"label": "bod",
"score": 1,
"text": "骨质"
},
{
"indices": [
14,
15,
16,
17,
18
],
"label": "sym",
"score": 1,
"text": "骨皮质变薄"
},
{
"indices": [
14,
15,
16
],
"label": "bod",
"score": 1,
"text": "骨皮质"
},
{
"indices": [
20,
21,
22,
23
],
"label": "sym",
"score": 1,
"text": "颅骨增大"
},
{
"indices": [
20,
21
],
"label": "bod",
"score": 1,
"text": "颅骨"
},
{
"indices": [
24,
25,
26,
27
],
"label": "sym",
"score": 1,
"text": "蝶鞍增大"
},
{
"indices": [
24,
25
],
"label": "bod",
"score": 1,
"text": "蝶鞍"
},
{
"indices": [
28,
29,
30,
31,
32
],
"label": "sym",
"score": 1,
"text": "后凸或侧凸"
},
{
"indices": [
34,
35,
36,
37,
38,
39,
40,
41
],
"label": "sym",
"score": 1,
"text": "椎体呈楔形或扁平"
},
{
"indices": [
34,
35
],
"label": "bod",
"score": 1,
"text": "椎体"
},
{
"indices": [
43,
44,
45,
46,
47,
48,
49,
50,
51,
52,
53,
54,
55,
56,
57,
58,
59,
60,
61
],
"label": "sym",
"score": 1,
"text": "胸、腰椎体前下缘呈鱼唇样前突或呈鸟嘴突"
},
{
"indices": [
43,
44,
45,
46,
47,
48,
49,
50
],
"label": "bod",
"score": 1,
"text": "胸、腰椎体前下缘"
},
{
"indices": [
62,
63,
64,
65,
66,
67,
68
],
"label": "sym",
"score": 1,
"text": "肋骨脊柱端细小"
},
{
"indices": [
62,
63,
64,
65,
66
],
"label": "bod",
"score": 1,
"text": "肋骨脊柱端"
},
{
"indices": [
67,
68,
69,
70,
71
],
"label": "bod",
"score": 1,
"text": "细小胸骨端"
},
{
"indices": [
69,
70,
71,
72,
73
],
"label": "sym",
"score": 1,
"text": "胸骨端增宽"
},
{
"indices": [
74,
75,
76
],
"label": "sym",
"score": 1,
"text": "飘带状"
},
{
"indices": [
78,
79,
80,
81
],
"label": "sym",
"score": 1,
"text": "掌骨短粗"
},
{
"indices": [
78,
79
],
"label": "bod",
"score": 1,
"text": "掌骨"
},
{
"indices": [
83,
84,
85,
86
],
"label": "sym",
"score": 1,
"text": "基底变尖"
},
{
"indices": [
88,
89,
90,
91,
92,
93
],
"label": "sym",
"score": 1,
"text": "指骨远端窄圆"
},
{
"indices": [
88,
89,
90,
91
],
"label": "bod",
"score": 1,
"text": "指骨远端"
},
{
"indices": [
95,
96,
97,
98,
99,
100,
101,
102
],
"label": "sym",
"score": 1,
"text": "腕骨骨化成熟延迟"
},
{
"indices": [
95,
96
],
"label": "bod",
"score": 1,
"text": "腕骨"
}
] |
3.醋酸纤维薄膜电泳可以区分尿中排出黏多糖的种类，并进行分型。 | [
{
"indices": [
2,
3,
4,
5,
6,
7,
8,
9
],
"label": "pro",
"score": 1,
"text": "醋酸纤维薄膜电泳"
},
{
"indices": [
14,
15,
16,
17,
18,
19,
20,
21,
22,
23
],
"label": "ite",
"score": 1,
"text": "尿中排出黏多糖的种类"
}
] |
4.酶学分析通过测定外周血白细胞，成纤维细胞中的特异性酶活性，以及尿中排出的黏多糖类型，可以对黏多糖病分型。 | [
{
"indices": [
2,
3,
4,
5
],
"label": "pro",
"score": 1,
"text": "酶学分析"
},
{
"indices": [
10,
11,
12,
13,
14,
15
],
"label": "bod",
"score": 1,
"text": "外周血白细胞"
},
{
"indices": [
17,
18,
19,
20,
21
],
"label": "bod",
"score": 1,
"text": "成纤维细胞"
},
{
"indices": [
24,
25,
26,
27,
28,
29
],
"label": "ite",
"score": 1,
"text": "特异性酶活性"
},
{
"indices": [
33,
34,
35,
36,
37,
38,
39,
40,
41,
42
],
"label": "ite",
"score": 1,
"text": "尿中排出的黏多糖类型"
},
{
"indices": [
47,
48,
49,
50
],
"label": "dis",
"score": 1,
"text": "黏多糖病"
}
] |
【诊断】1.根据临床特殊面容和体征、X线片表现以及尿黏多糖阳性，可以作出诊断。 | [
{
"indices": [
10,
11,
12,
13
],
"label": "sym",
"score": 1,
"text": "特殊面容"
},
{
"indices": [
15,
16
],
"label": "pro",
"score": 1,
"text": "体征"
},
{
"indices": [
18,
19,
20
],
"label": "pro",
"score": 1,
"text": "X线片"
},
{
"indices": [
25,
26,
27,
28,
29,
30
],
"label": "sym",
"score": 1,
"text": "尿黏多糖阳性"
},
{
"indices": [
25,
26,
27,
28
],
"label": "ite",
"score": 1,
"text": "尿黏多糖"
}
] |
2.家族史中有黏多糖病人对早期诊断有帮助。 | [
{
"indices": [
7,
8,
9,
10
],
"label": "dis",
"score": 1,
"text": "黏多糖病"
}
] |
本病应与佝偻病、先天性甲状腺功能减低症、粘脂病各型、甘露糖贮积病以及GM1神经节苷脂沉积病等鉴别，这些疾病临床表现与黏多糖病相似，但尿中黏多糖排量不增加。 | [
{
"indices": [
4,
5,
6
],
"label": "dis",
"score": 1,
"text": "佝偻病"
},
{
"indices": [
8,
9,
10,
11,
12,
13,
14,
15,
16,
17,
18
],
"label": "dis",
"score": 1,
"text": "先天性甲状腺功能减低症"
},
{
"indices": [
20,
21,
22,
23,
24
],
"label": "dis",
"score": 1,
"text": "粘脂病各型"
},
{
"indices": [
26,
27,
28,
29,
30,
31
],
"label": "dis",
"score": 1,
"text": "甘露糖贮积病"
},
{
"indices": [
34,
35,
36,
37,
38,
39,
40,
41,
42,
43,
44
],
"label": "dis",
"score": 1,
"text": "GM1神经节苷脂沉积病"
},
{
"indices": [
58,
59,
60,
61
],
"label": "dis",
"score": 1,
"text": "黏多糖病"
},
{
"indices": [
66,
67,
68,
69,
70,
71,
72,
73,
74,
75
],
"label": "sym",
"score": 1,
"text": "尿中黏多糖排量不增加"
},
{
"indices": [
66
],
"label": "bod",
"score": 1,
"text": "尿"
},
{
"indices": [
68,
69,
70
],
"label": "ite",
"score": 1,
"text": "黏多糖"
}
] |
【治疗】目前对各型黏多糖病无病因治疗方法，可做一些对症处理。 | [
{
"indices": [
9,
10,
11,
12
],
"label": "dis",
"score": 1,
"text": "黏多糖病"
}
] |
【预后】本组未治疗病例随年龄增大而病情加重，出现进行性智能障碍，骨、关节症状加重肺炎或心脏病，少数类型可存活至成人。 | [
{
"indices": [
24,
25,
26,
27,
28,
29,
30
],
"label": "sym",
"score": 1,
"text": "进行性智能障碍"
},
{
"indices": [
32
],
"label": "bod",
"score": 1,
"text": "骨"
},
{
"indices": [
32,
33,
34,
35,
36,
37,
38,
39
],
"label": "sym",
"score": 1,
"text": "骨、关节症状加重"
},
{
"indices": [
34,
35
],
"label": "bod",
"score": 1,
"text": "关节"
},
{
"indices": [
40,
41
],
"label": "dis",
"score": 1,
"text": "肺炎"
},
{
"indices": [
43,
44,
45
],
"label": "dis",
"score": 1,
"text": "心脏病"
}
] |
参考文献1.彭文伟.传染病学.第3版.北京：人民卫生出版社，19922.杨永弘.小儿细菌性肺炎及其病原学诊断.中华儿科杂志，1992，30（4）：2563.杨永弘.儿科细菌感染性疾病及其病原学诊断中的几个问题.中华儿科杂志，1993，31（1）：66-684.朱忠勇.实用医学检验学.北京：人民军医出版社，19925.李苏利.临床微生物检验的快速诊断技术研究进展.当代医学，2009，16：15-15 | [
{
"indices": [
10,
11,
12
],
"label": "dis",
"score": 1,
"text": "传染病"
},
{
"indices": [
42,
43,
44,
45,
46
],
"label": "dis",
"score": 1,
"text": "细菌性肺炎"
},
{
"indices": [
49,
50,
51,
52,
53
],
"label": "pro",
"score": 1,
"text": "病原学诊断"
},
{
"indices": [
84,
85,
86,
87,
88,
89,
90
],
"label": "dis",
"score": 1,
"text": "细菌感染性疾病"
},
{
"indices": [
93,
94,
95,
96,
97
],
"label": "pro",
"score": 1,
"text": "病原学诊断"
},
{
"indices": [
165,
166,
167,
168,
169
],
"label": "pro",
"score": 1,
"text": "微生物检验"
},
{
"indices": [
171,
172,
173,
174,
175,
176
],
"label": "pro",
"score": 1,
"text": "快速诊断技术"
}
] |
四、Addis计数Addis计数是测定夜间12小时尿液中有形成分的数量，可以定量地反映尿中细胞及管型的数量。 | [
{
"indices": [
2,
3,
4,
5,
6,
7,
8
],
"label": "pro",
"score": 1,
"text": "Addis计数"
},
{
"indices": [
9,
10,
11,
12,
13,
14,
15
],
"label": "pro",
"score": 1,
"text": "Addis计数"
},
{
"indices": [
19,
20,
21,
22,
23,
24,
25,
26,
27,
28,
29,
30,
31,
32,
33,
34
],
"label": "ite",
"score": 1,
"text": "夜间12小时尿液中有形成分的数量"
},
{
"indices": [
43,
44,
45,
46,
47,
48,
49,
50,
51,
52
],
"label": "ite",
"score": 1,
"text": "尿中细胞及管型的数量"
}
] |
正常参考值为管型0～5000个/12h尿，红细胞0～50万个/12h尿，白细胞0～100万个/12h尿。 | [
{
"indices": [
6,
7
],
"label": "ite",
"score": 1,
"text": "管型"
},
{
"indices": [
19
],
"label": "bod",
"score": 1,
"text": "尿"
},
{
"indices": [
21,
22,
23
],
"label": "ite",
"score": 1,
"text": "红细胞"
},
{
"indices": [
34
],
"label": "bod",
"score": 1,
"text": "尿"
},
{
"indices": [
36,
37,
38
],
"label": "ite",
"score": 1,
"text": "白细胞"
},
{
"indices": [
50
],
"label": "bod",
"score": 1,
"text": "尿"
}
] |
收集3小时尿再计算出1小时尿有形成分排泄率也可定量反映尿改变。 | [
{
"indices": [
5
],
"label": "bod",
"score": 1,
"text": "尿"
},
{
"indices": [
13,
14,
15,
16,
17,
18,
19,
20
],
"label": "ite",
"score": 1,
"text": "尿有形成分排泄率"
},
{
"indices": [
27
],
"label": "bod",
"score": 1,
"text": "尿"
}
] |
成人正常值为红细胞：男＜3万个/h，女＜4万/h；白细胞：男＜7万个/h，女＜14万个/h，小儿正常值为成人的1～2倍。 | [
{
"indices": [
6,
7,
8
],
"label": "ite",
"score": 1,
"text": "红细胞"
},
{
"indices": [
25,
26,
27
],
"label": "ite",
"score": 1,
"text": "白细胞"
}
] |
第十四节流行性出血热流行性出血热（epidemichemorrhagicfever，EHF）是由汉坦病毒引起的自然疫源性疾病。 | [
{
"indices": [
4,
5,
6,
7,
8,
9
],
"label": "dis",
"score": 1,
"text": "流行性出血热"
},
{
"indices": [
10,
11,
12,
13,
14,
15
],
"label": "dis",
"score": 1,
"text": "流行性出血热"
},
{
"indices": [
17,
18,
19,
20,
21,
22,
23,
24,
25,
26,
27,
28,
29,
30,
31,
32,
33,
34,
35,
36,
37,
38,
39,
40
],
"label": "dis",
"score": 1,
"text": "epidemichemorrhagicfever"
},
{
"indices": [
42,
43,
44
],
"label": "dis",
"score": 1,
"text": "EHF"
},
{
"indices": [
48,
49,
50,
51
],
"label": "mic",
"score": 1,
"text": "汉坦病毒"
},
{
"indices": [
55,
56,
57,
58,
59,
60,
61
],
"label": "dis",
"score": 1,
"text": "自然疫源性疾病"
}
] |
临床上以发热、出血、周围循环衰竭及肾脏损害为特征。 | [
{
"indices": [
4,
5
],
"label": "sym",
"score": 1,
"text": "发热"
},
{
"indices": [
7,
8
],
"label": "sym",
"score": 1,
"text": "出血"
},
{
"indices": [
8
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
10,
11,
12,
13,
14,
15
],
"label": "dis",
"score": 1,
"text": "周围循环衰竭"
},
{
"indices": [
17,
18,
19,
20
],
"label": "dis",
"score": 1,
"text": "肾脏损害"
}
] |
【病原和流行病学】汉坦病毒（hantaviruses，HVs）归类为布尼亚病毒科汉坦病毒属。 | [
{
"indices": [
9,
10,
11,
12
],
"label": "mic",
"score": 1,
"text": "汉坦病毒"
},
{
"indices": [
14,
15,
16,
17,
18,
19,
20,
21,
22,
23,
24,
25
],
"label": "mic",
"score": 1,
"text": "hantaviruses"
},
{
"indices": [
27,
28,
29
],
"label": "mic",
"score": 1,
"text": "HVs"
},
{
"indices": [
34,
35,
36,
37,
38
],
"label": "mic",
"score": 1,
"text": "布尼亚病毒"
},
{
"indices": [
40,
41,
42,
43
],
"label": "mic",
"score": 1,
"text": "汉坦病毒"
}
] |
其中9个主要型别为汉滩型（hantaanvirus，HTNV）、汉城型（SEOV）、普马拉型（PUUV）、希望山型（PHV）、泰国型（ThAIV）、印度型（TPMV）、多布拉伐-贝尔格莱德型（DOBV）、无名病毒型（SNV）和纽约型（NYV）。 | [
{
"indices": [
104,
105
],
"label": "mic",
"score": 1,
"text": "病毒"
}
] |
病毒基因由3个负链RNA环状分子组成，外被核衣壳和包膜。 | [
{
"indices": [
0,
1,
2,
3
],
"label": "mic",
"score": 1,
"text": "病毒基因"
},
{
"indices": [
7,
8,
9,
10,
11,
12,
13,
14,
15
],
"label": "mic",
"score": 1,
"text": "负链RNA环状分子"
},
{
"indices": [
19,
20,
21,
22,
23
],
"label": "mic",
"score": 1,
"text": "外被核衣壳"
},
{
"indices": [
25,
26
],
"label": "mic",
"score": 1,
"text": "包膜"
}
] |
包膜含血凝素抗原，在病毒黏附、穿入和脱衣壳中起重要作用。 | [
{
"indices": [
0,
1
],
"label": "mic",
"score": 1,
"text": "包膜"
},
{
"indices": [
3,
4,
5,
6,
7
],
"label": "mic",
"score": 1,
"text": "血凝素抗原"
},
{
"indices": [
10,
11
],
"label": "mic",
"score": 1,
"text": "病毒"
},
{
"indices": [
19,
20
],
"label": "mic",
"score": 1,
"text": "衣壳"
}
] |
病毒可在多种细胞或细胞株中生长，但致细胞病变的作用较弱，其生长缓慢，病毒滴度一般在接种后7～14天达高峰。 | [
{
"indices": [
0,
1
],
"label": "mic",
"score": 1,
"text": "病毒"
},
{
"indices": [
6,
7
],
"label": "bod",
"score": 1,
"text": "细胞"
},
{
"indices": [
9,
10,
11
],
"label": "bod",
"score": 1,
"text": "细胞株"
},
{
"indices": [
18,
19,
20,
21
],
"label": "dis",
"score": 1,
"text": "细胞病变"
},
{
"indices": [
34,
35
],
"label": "mic",
"score": 1,
"text": "病毒"
},
{
"indices": [
41,
42
],
"label": "pro",
"score": 1,
"text": "接种"
}
] |
病毒对外环境抵抗力不强，75%乙醇、乙醚等脂溶剂、0.5%碘酒、戊二醛、酸（pH3～5）、56℃30分钟、紫外线可使之灭活。 | [
{
"indices": [
0,
1
],
"label": "mic",
"score": 1,
"text": "病毒"
},
{
"indices": [
12,
13,
14,
15,
16
],
"label": "dru",
"score": 1,
"text": "75%乙醇"
},
{
"indices": [
18,
19
],
"label": "dru",
"score": 1,
"text": "乙醚"
},
{
"indices": [
21,
22,
23
],
"label": "dru",
"score": 1,
"text": "脂溶剂"
},
{
"indices": [
25,
26,
27,
28,
29,
30
],
"label": "dru",
"score": 1,
"text": "0.5%碘酒"
},
{
"indices": [
32,
33,
34
],
"label": "dru",
"score": 1,
"text": "戊二醛"
},
{
"indices": [
36,
37,
38,
39,
40,
41,
42,
43
],
"label": "dru",
"score": 1,
"text": "酸（pH3～5）"
},
{
"indices": [
45,
46,
47,
48,
49,
50,
51,
52,
53,
54,
55,
56,
57,
58,
59,
60
],
"label": "pro",
"score": 1,
"text": "56℃30分钟、紫外线可使之灭活"
}
] |
带病毒的鼠类是主要传染源和储存宿主。 | [
{
"indices": [
1,
2
],
"label": "mic",
"score": 1,
"text": "病毒"
}
] |
病毒有多种传播途径，以动物源传播为主，即人接触带病毒动物排泄物而感染；带毒排泄物形成的气溶胶能经呼吸道感染人体；其他如消化道及虫媒（寄生虫与带毒动物身上的螨类叮咬人体）传播也已证明，罕见人与人之间传播的报道。 | [
{
"indices": [
0,
1
],
"label": "mic",
"score": 1,
"text": "病毒"
},
{
"indices": [
24,
25
],
"label": "mic",
"score": 1,
"text": "病毒"
},
{
"indices": [
32,
33
],
"label": "dis",
"score": 1,
"text": "感染"
},
{
"indices": [
48,
49,
50
],
"label": "bod",
"score": 1,
"text": "呼吸道"
},
{
"indices": [
59,
60,
61
],
"label": "bod",
"score": 1,
"text": "消化道"
},
{
"indices": [
66,
67,
68
],
"label": "mic",
"score": 1,
"text": "寄生虫"
},
{
"indices": [
77,
78
],
"label": "mic",
"score": 1,
"text": "螨类"
}
] |
已报道全球有78个国家和地区的人和动物感染汉坦病毒，我国疫情最重，占发病人数的90%以上，1997～1999年全国年报告病例达4.1万～4.6万余，2000年和2001年分别为35810和33872例。 | [
{
"indices": [
21,
22,
23,
24
],
"label": "mic",
"score": 1,
"text": "汉坦病毒"
}
] |
【发病机制和病理】EHF的发病机制并不十分明了。 | [
{
"indices": [
9,
10,
11
],
"label": "dis",
"score": 1,
"text": "EHF"
}
] |
一般认为，早期损伤是病毒直接致病作用所致，晚期则是病毒介导的免疫性损伤。 | [
{
"indices": [
10,
11
],
"label": "mic",
"score": 1,
"text": "病毒"
},
{
"indices": [
25,
26
],
"label": "mic",
"score": 1,
"text": "病毒"
},
{
"indices": [
30,
31,
32,
33,
34
],
"label": "dis",
"score": 1,
"text": "免疫性损伤"
}
] |
HVs的组织细胞嗜性广泛，血管内皮细胞和多种免疫细胞如T细胞、B细胞、单核/巨噬细胞、脑胶质细胞及肝库普弗细胞等为其靶细胞。 | [
{
"indices": [
0,
1,
2
],
"label": "mic",
"score": 1,
"text": "HVs"
},
{
"indices": [
4,
5,
6,
7
],
"label": "mic",
"score": 1,
"text": "组织细胞"
},
{
"indices": [
13,
14,
15,
16,
17,
18
],
"label": "bod",
"score": 1,
"text": "血管内皮细胞"
},
{
"indices": [
22,
23,
24,
25
],
"label": "bod",
"score": 1,
"text": "免疫细胞"
},
{
"indices": [
27,
28,
29
],
"label": "bod",
"score": 1,
"text": "T细胞"
},
{
"indices": [
31,
32,
33
],
"label": "bod",
"score": 1,
"text": "B细胞"
},
{
"indices": [
35,
36,
37,
38,
39,
40,
41
],
"label": "bod",
"score": 1,
"text": "单核/巨噬细胞"
},
{
"indices": [
43,
44,
45,
46,
47
],
"label": "bod",
"score": 1,
"text": "脑胶质细胞"
},
{
"indices": [
49,
50,
51,
52,
53,
54
],
"label": "bod",
"score": 1,
"text": "肝库普弗细胞"
},
{
"indices": [
58,
59,
60
],
"label": "bod",
"score": 1,
"text": "靶细胞"
}
] |
病毒侵入人体后，首先累及单核-吞噬细胞系统，病毒入血致短暂病毒血症后出现全身广泛微血管损伤，表现为微血管充血、水肿、变性和坏死。 | [
{
"indices": [
0,
1
],
"label": "mic",
"score": 1,
"text": "病毒"
},
{
"indices": [
12,
13,
14,
15,
16,
17,
18,
19,
20
],
"label": "bod",
"score": 1,
"text": "单核-吞噬细胞系统"
},
{
"indices": [
22,
23
],
"label": "mic",
"score": 1,
"text": "病毒"
},
{
"indices": [
25
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
29,
30,
31,
32
],
"label": "dis",
"score": 1,
"text": "病毒血症"
},
{
"indices": [
36,
37,
38,
39,
40,
41,
42,
43,
44
],
"label": "dis",
"score": 1,
"text": "全身广泛微血管损伤"
},
{
"indices": [
49,
50,
51
],
"label": "bod",
"score": 1,
"text": "微血管"
},
{
"indices": [
49,
50,
51,
52,
53
],
"label": "sym",
"score": 1,
"text": "微血管充血"
},
{
"indices": [
53
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
55,
56
],
"label": "sym",
"score": 1,
"text": "水肿"
},
{
"indices": [
58,
59
],
"label": "sym",
"score": 1,
"text": "变性"
},
{
"indices": [
61,
62
],
"label": "dis",
"score": 1,
"text": "坏死"
}
] |
血管通透性增加，血浆大量外渗，致有效循环血量减少。 | [
{
"indices": [
0,
1
],
"label": "bod",
"score": 1,
"text": "血管"
},
{
"indices": [
0,
1,
2,
3,
4,
5,
6
],
"label": "sym",
"score": 1,
"text": "血管通透性增加"
},
{
"indices": [
8,
9
],
"label": "bod",
"score": 1,
"text": "血浆"
},
{
"indices": [
8,
9,
10,
11,
12,
13
],
"label": "sym",
"score": 1,
"text": "血浆大量外渗"
},
{
"indices": [
16,
17,
18,
19,
20,
21,
22,
23
],
"label": "sym",
"score": 1,
"text": "有效循环血量减少"
},
{
"indices": [
16,
17,
18,
19,
20,
21
],
"label": "ite",
"score": 1,
"text": "有效循环血量"
}
] |
肾血流量减少和其滤过率下降，经刺激肾素-血管紧张素-醛固酮系统分泌增多导致少尿。 | [
{
"indices": [
0,
1,
2,
3,
4,
5,
6,
7,
8,
9,
10,
11,
12
],
"label": "dis",
"score": 1,
"text": "肾血流量减少和其滤过率下降"
},
{
"indices": [
17,
18,
19,
20,
21,
22,
23,
24,
25,
26,
27,
28,
29,
30,
31,
32,
33,
34
],
"label": "sym",
"score": 1,
"text": "肾素-血管紧张素-醛固酮系统分泌增多"
},
{
"indices": [
17,
18,
19,
20,
21,
22,
23,
24,
25,
26,
27,
28,
29,
30
],
"label": "bod",
"score": 1,
"text": "肾素-血管紧张素-醛固酮系统"
},
{
"indices": [
38
],
"label": "bod",
"score": 1,
"text": "尿"
}
] |
肾缺血致肾小管上皮坏死，加上肾间质水肿使肾小管狭窄甚至闭塞，加重少尿。 | [
{
"indices": [
0,
1,
2
],
"label": "sym",
"score": 1,
"text": "肾缺血"
},
{
"indices": [
0
],
"label": "bod",
"score": 1,
"text": "肾"
},
{
"indices": [
4,
5,
6,
7,
8,
9,
10
],
"label": "dis",
"score": 1,
"text": "肾小管上皮坏死"
},
{
"indices": [
14,
15,
16,
17,
18
],
"label": "sym",
"score": 1,
"text": "肾间质水肿"
},
{
"indices": [
14,
15,
16
],
"label": "bod",
"score": 1,
"text": "肾间质"
},
{
"indices": [
20,
21,
22,
23,
24,
25,
26,
27,
28
],
"label": "sym",
"score": 1,
"text": "肾小管狭窄甚至闭塞"
},
{
"indices": [
20,
21,
22
],
"label": "bod",
"score": 1,
"text": "肾小管"
},
{
"indices": [
32,
33
],
"label": "sym",
"score": 1,
"text": "少尿"
},
{
"indices": [
33
],
"label": "bod",
"score": 1,
"text": "尿"
}
] |
大量免疫复合物沉积于血管和肾小球基底膜，参与血管壁和肾脏损伤机制。 | [
{
"indices": [
0,
1,
2,
3,
4,
5,
6,
7,
8,
9,
10,
11,
12,
13,
14,
15,
16,
17,
18
],
"label": "sym",
"score": 1,
"text": "大量免疫复合物沉积于血管和肾小球基底膜"
},
{
"indices": [
10,
11
],
"label": "bod",
"score": 1,
"text": "血管"
},
{
"indices": [
13,
14,
15,
16,
17,
18
],
"label": "bod",
"score": 1,
"text": "肾小球基底膜"
},
{
"indices": [
22,
23,
24
],
"label": "bod",
"score": 1,
"text": "血管壁"
},
{
"indices": [
26,
27
],
"label": "bod",
"score": 1,
"text": "肾脏"
}
] |
患者早期血中IgE明显增高，并可检出自身抗体，提示存在Ⅰ型和Ⅱ型变态反应。 | [
{
"indices": [
4
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
4,
5,
6,
7,
8,
9,
10,
11,
12
],
"label": "sym",
"score": 1,
"text": "血中IgE明显增高"
},
{
"indices": [
6,
7,
8
],
"label": "ite",
"score": 1,
"text": "IgE"
},
{
"indices": [
16,
17,
18,
19,
20,
21
],
"label": "pro",
"score": 1,
"text": "检出自身抗体"
},
{
"indices": [
27,
28,
29,
30,
31,
32,
33,
34,
35
],
"label": "sym",
"score": 1,
"text": "Ⅰ型和Ⅱ型变态反应"
}
] |
最近研究显示，患者免疫细胞增生活跃，CD8<sup>+</sup>T细胞增加，NK细胞活性增强，认为细胞免疫在病毒清除和致病机制中起双重作用。 | [
{
"indices": [
9,
10,
11,
12
],
"label": "bod",
"score": 1,
"text": "免疫细胞"
},
{
"indices": [
9,
10,
11,
12,
13,
14,
15,
16
],
"label": "sym",
"score": 1,
"text": "免疫细胞增生活跃"
},
{
"indices": [
18,
19,
20,
21,
22,
23,
24,
25,
26,
27,
28,
29,
30,
31,
32,
33,
34,
35,
36,
37
],
"label": "sym",
"score": 1,
"text": "CD8<sup>+</sup>T细胞增加"
},
{
"indices": [
18,
19,
20,
21,
22,
23,
24,
25,
26,
27,
28,
29,
30,
31,
32,
33,
34,
35
],
"label": "ite",
"score": 1,
"text": "CD8<sup>+</sup>T细胞"
},
{
"indices": [
39,
40,
41,
42
],
"label": "bod",
"score": 1,
"text": "NK细胞"
},
{
"indices": [
39,
40,
41,
42,
43,
44,
45,
46
],
"label": "sym",
"score": 1,
"text": "NK细胞活性增强"
},
{
"indices": [
50,
51,
52,
53
],
"label": "bod",
"score": 1,
"text": "细胞免疫"
},
{
"indices": [
55,
56
],
"label": "mic",
"score": 1,
"text": "病毒"
}
] |
典型病理改变为多发性出血、严重渗出和水肿及灶状坏死和细胞浸润。 | [
{
"indices": [
7,
8,
9,
10,
11
],
"label": "sym",
"score": 1,
"text": "多发性出血"
},
{
"indices": [
13,
14,
15,
16
],
"label": "sym",
"score": 1,
"text": "严重渗出"
},
{
"indices": [
18,
19
],
"label": "sym",
"score": 1,
"text": "水肿"
},
{
"indices": [
21,
22,
23,
24
],
"label": "dis",
"score": 1,
"text": "灶状坏死"
},
{
"indices": [
26,
27,
28,
29
],
"label": "sym",
"score": 1,
"text": "细胞浸润"
},
{
"indices": [
26,
27
],
"label": "bod",
"score": 1,
"text": "细胞"
}
] |
肾脏病变广泛，髓质充血、出血；肾小管上皮肿胀、变性、坏死；内皮脱落；包膜紧张可至肾破裂；全尿路均可出血。 | [
{
"indices": [
0,
1,
2,
3
],
"label": "dis",
"score": 1,
"text": "肾脏病变"
},
{
"indices": [
7,
8
],
"label": "bod",
"score": 1,
"text": "髓质"
},
{
"indices": [
7,
8,
9,
10,
11,
12,
13
],
"label": "sym",
"score": 1,
"text": "髓质充血、出血"
},
{
"indices": [
10
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
13
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
15,
16,
17,
18,
19
],
"label": "bod",
"score": 1,
"text": "肾小管上皮"
},
{
"indices": [
15,
16,
17,
18,
19,
20,
21,
22,
23,
24,
25,
26,
27
],
"label": "sym",
"score": 1,
"text": "肾小管上皮肿胀、变性、坏死"
},
{
"indices": [
29,
30,
31,
32
],
"label": "sym",
"score": 1,
"text": "内皮脱落"
},
{
"indices": [
34,
35
],
"label": "bod",
"score": 1,
"text": "包膜"
},
{
"indices": [
34,
35,
36,
37
],
"label": "sym",
"score": 1,
"text": "包膜紧张"
},
{
"indices": [
40,
41,
42
],
"label": "dis",
"score": 1,
"text": "肾破裂"
},
{
"indices": [
45,
46
],
"label": "bod",
"score": 1,
"text": "尿路"
},
{
"indices": [
49,
50
],
"label": "sym",
"score": 1,
"text": "出血"
},
{
"indices": [
50
],
"label": "bod",
"score": 1,
"text": "血"
}
] |
心脏以右心房病变多见，心壁细胞变性、浸润及出血；纤维断裂。 | [
{
"indices": [
0,
1
],
"label": "bod",
"score": 1,
"text": "心脏"
},
{
"indices": [
3,
4,
5,
6,
7
],
"label": "dis",
"score": 1,
"text": "右心房病变"
},
{
"indices": [
11,
12,
13,
14,
15,
16,
17,
18,
19,
20,
21,
22
],
"label": "sym",
"score": 1,
"text": "心壁细胞变性、浸润及出血"
},
{
"indices": [
11,
12,
13,
14
],
"label": "bod",
"score": 1,
"text": "心壁细胞"
},
{
"indices": [
24,
25,
26,
27
],
"label": "sym",
"score": 1,
"text": "纤维断裂"
}
] |
脑垂体肿大，前叶明显充血、出血和坏死。 | [
{
"indices": [
0,
1,
2
],
"label": "bod",
"score": 1,
"text": "脑垂体"
},
{
"indices": [
0,
1,
2,
3,
4
],
"label": "sym",
"score": 1,
"text": "脑垂体肿大"
},
{
"indices": [
6,
7
],
"label": "bod",
"score": 1,
"text": "前叶"
},
{
"indices": [
6,
7,
8,
9,
10,
11
],
"label": "sym",
"score": 1,
"text": "前叶明显充血"
},
{
"indices": [
11
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
13,
14
],
"label": "sym",
"score": 1,
"text": "出血"
},
{
"indices": [
14
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
16,
17
],
"label": "dis",
"score": 1,
"text": "坏死"
}
] |
腹膜后胶冻样水肿为本病所特有。 | [
{
"indices": [
0,
1,
2
],
"label": "bod",
"score": 1,
"text": "腹膜后"
},
{
"indices": [
0,
1,
2,
3,
4,
5,
6,
7
],
"label": "sym",
"score": 1,
"text": "腹膜后胶冻样水肿"
}
] |
（一）发热期相当于病毒血症期。 | [
{
"indices": [
3,
4
],
"label": "sym",
"score": 1,
"text": "发热"
},
{
"indices": [
9,
10,
11,
12
],
"label": "dis",
"score": 1,
"text": "病毒血症"
}
] |
血及尿中有病毒存在，故有传染性。 | [
{
"indices": [
0
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
2
],
"label": "bod",
"score": 1,
"text": "尿"
},
{
"indices": [
5,
6
],
"label": "mic",
"score": 1,
"text": "病毒"
}
] |
主要表现有：1.发热及中毒症状几乎均有发热，多急起，体温可达38～40℃，以弛张热、稽留热型为多，热程一般3～7天。 | [
{
"indices": [
8,
9
],
"label": "sym",
"score": 1,
"text": "发热"
},
{
"indices": [
11,
12
],
"label": "dis",
"score": 1,
"text": "中毒"
},
{
"indices": [
19,
20
],
"label": "sym",
"score": 1,
"text": "发热"
},
{
"indices": [
26,
27,
28,
29,
30,
31,
32,
33,
34,
35
],
"label": "sym",
"score": 1,
"text": "体温可达38～40℃"
},
{
"indices": [
38,
39,
40
],
"label": "sym",
"score": 1,
"text": "弛张热"
},
{
"indices": [
42,
43,
44
],
"label": "sym",
"score": 1,
"text": "稽留热"
}
] |
常伴三痛症：头痛、腰痛及眼眶痛。 | [
{
"indices": [
2,
3,
4
],
"label": "dis",
"score": 1,
"text": "三痛症"
},
{
"indices": [
6,
7
],
"label": "sym",
"score": 1,
"text": "头痛"
},
{
"indices": [
6
],
"label": "bod",
"score": 1,
"text": "头"
},
{
"indices": [
9,
10
],
"label": "sym",
"score": 1,
"text": "腰痛"
},
{
"indices": [
9
],
"label": "bod",
"score": 1,
"text": "腰"
},
{
"indices": [
12,
13,
14
],
"label": "sym",
"score": 1,
"text": "眼眶痛"
},
{
"indices": [
12,
13
],
"label": "bod",
"score": 1,
"text": "眼眶"
}
] |
由于脑膜及脑实质血管充血、水肿及出血，引起剧烈头痛。 | [
{
"indices": [
2,
3,
4,
5,
6,
7,
8,
9,
10,
11,
12,
13,
14,
15,
16,
17
],
"label": "sym",
"score": 1,
"text": "脑膜及脑实质血管充血、水肿及出血"
},
{
"indices": [
2,
3
],
"label": "bod",
"score": 1,
"text": "脑膜"
},
{
"indices": [
5,
6,
7,
8,
9
],
"label": "bod",
"score": 1,
"text": "脑实质血管"
},
{
"indices": [
11
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
17
],
"label": "bod",
"score": 1,
"text": "血"
},
{
"indices": [
21,
22,
23,
24
],
"label": "sym",
"score": 1,
"text": "剧烈头痛"
},
{
"indices": [
23
],
"label": "bod",
"score": 1,
"text": "头"
}
] |
腰痛和肾区叩痛与肾充血、水肿、包膜紧张及腹膜后水肿有关；眼眶痛系眼球周围软组织水肿出血引起眶压增高所致。 | [
{
"indices": [
0,
1
],
"label": "sym",
"score": 1,
"text": "腰痛"
},
{
"indices": [
0
],
"label": "bod",
"score": 1,
"text": "腰"
},
{
"indices": [
3,
4,
5,
6
],
"label": "sym",
"score": 1,
"text": "肾区叩痛"
},
{
"indices": [
3,
4
],
"label": "bod",
"score": 1,
"text": "肾区"
},
{
"indices": [
8,
9,
10
],
"label": "dis",
"score": 1,
"text": "肾充血"
},
{
"indices": [
12,
13
],
"label": "sym",
"score": 1,
"text": "水肿"
},
{
"indices": [
15,
16,
17,
18
],
"label": "sym",
"score": 1,
"text": "包膜紧张"
},
{
"indices": [
15,
16
],
"label": "bod",
"score": 1,
"text": "包膜"
},
{
"indices": [
20,
21,
22,
23,
24
],
"label": "sym",
"score": 1,
"text": "腹膜后水肿"
},
{
"indices": [
20,
21,
22
],
"label": "bod",
"score": 1,
"text": "腹膜后"
},
{
"indices": [
28,
29,
30
],
"label": "sym",
"score": 1,
"text": "眼眶痛"
},
{
"indices": [
28,
29
],
"label": "bod",
"score": 1,
"text": "眼眶"
},
{
"indices": [
32,
33,
34,
35,
36,
37,
38,
39,
40,
41,
42
],
"label": "sym",
"score": 1,
"text": "眼球周围软组织水肿出血"
},
{
"indices": [
32,
33,
34,
35,
36,
37,
38
],
"label": "bod",
"score": 1,
"text": "眼球周围软组织"
},
{
"indices": [
45,
46,
47,
48
],
"label": "sym",
"score": 1,
"text": "眶压增高"
},
{
"indices": [
45,
46
],
"label": "ite",
"score": 1,
"text": "眶压"
}
] |
患者常有口渴、食欲下降、恶心、呕吐和腹痛、腹泻。 | [
{
"indices": [
4,
5
],
"label": "sym",
"score": 1,
"text": "口渴"
},
{
"indices": [
4
],
"label": "bod",
"score": 1,
"text": "口"
},
{
"indices": [
7,
8,
9,
10
],
"label": "sym",
"score": 1,
"text": "食欲下降"
},
{
"indices": [
12,
13
],
"label": "sym",
"score": 1,
"text": "恶心"
},
{
"indices": [
15,
16
],
"label": "sym",
"score": 1,
"text": "呕吐"
},
{
"indices": [
18,
19
],
"label": "sym",
"score": 1,
"text": "腹痛"
},
{
"indices": [
18
],
"label": "bod",
"score": 1,
"text": "腹"
},
{
"indices": [
21,
22
],
"label": "sym",
"score": 1,
"text": "腹泻"
},
{
"indices": [
21
],
"label": "bod",
"score": 1,
"text": "腹"
}
] |
大便可带黏血。 | [
{
"indices": [
0,
1
],
"label": "bod",
"score": 1,
"text": "大便"
},
{
"indices": [
0,
1,
2,
3,
4,
5
],
"label": "sym",
"score": 1,
"text": "大便可带黏血"
},
{
"indices": [
4,
5
],
"label": "bod",
"score": 1,
"text": "黏血"
}
] |