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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。
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患者常有口渴、食欲下降、恶心、呕吐和腹痛、腹泻。
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大便可带黏血。
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重患者可有嗜睡或兴奋不安、谵语等。
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2.毛细血管损害包括:①三红症:眼结膜、颜面、颈及上胸部明显充血潮红,呈酒醉貌;②出血:软腭、球结膜、腋下和胸背皮肤见针尖大小出血点,呈特征性搔抓样或条痕样排列。
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重症见大片皮肤瘀斑,血尿、呕血及便血,束臂试验强阳性;③渗出:常见球结膜和眼睑水肿,面部、四肢亦可肿胀,可有腹水。
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3.肾脏损害蛋白尿为最常见的早期表现之一,可有血尿和尿量减少。
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(二)低血压休克期发热后期(一般在病后4~6天)或退热同时可有血压下降甚至休克,呈现“热退症更重”的特点。
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表现为:低血压:收缩压下降,脉压变小、脉快而弱、球结膜水肿,尿少,烦躁不安等;②休克:收缩压低于9.3kPa,脉压小于2.6kPa。
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脉细弱或扪不到,球结膜水肿更重,出现明显消化道及精神神经症状。
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尿少、蛋白尿及出血症状更明显。
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(三)少尿期多发生于病程第5~8天,持续约2~5天。
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症状以急性肾衰竭为主,表现为尿毒症、酸中毒、电解质紊乱、高血容量综合征(表现为脉搏洪大,静脉充血、水肿、血红蛋白下降等)。
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前述各期的症状可加重,可因颅内压增高出现烦躁、谵妄甚至昏迷、抽搐等。
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(四)多尿期于病程第9~14天进入多尿期,持续1~2周,可分为移行阶段(尿量从少尿增至正常尿量)、多尿早期和多尿后期。
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在前二阶段,氮质血症仍逐日上升,症状可继续加重。
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进入多尿后期,患者症状逐渐减轻,氮质血症好转,酸中毒和高血容量得以纠正。
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若过度利尿,失水、失盐,加之继发感染或出血等可诱发第二次休克或再次肾衰竭。
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尿量减少至肾功能恢复,症状体征消失,各种化验逐渐正常。
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小儿出血热临床经过与成人基本相似,但5个病期经过不完全,临床表现除消化道症状明显外,其他症状与体征较成人轻,预后较好。
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【实验室检查】(一)常规检查1.血常规检查白细胞总数于病程第3~4天开始增高,15×109</sup>~30×109</sup>/L,少数高达50×109</sup>/L以上。
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早期中性粒细胞增高,核左移,可见中毒颗粒和类白血病反应;病程第5~8天后淋巴细胞增高;异淋出现于病程早期。
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血红蛋白因血液浓缩而升高。
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血小板有不同程度下降,DIC时下降更明显。
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2.尿常规蛋白尿是出血热肾损害的最早征象。
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还可有血尿及管型尿。
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少数病例尿中出现膜状物,为凝血块、蛋白和脱落上皮细胞的混合物。
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尿中溶菌酶、N-乙酰氨基糖苷酶(NAG)亦可阳性。
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(二)血生化检查发热晚期血尿素氮及肌酐开始升高,少尿及多尿早期达高峰,常见代谢性酸中毒合并呼吸性碱中毒。
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血钠、氯、钙在全病程均降低,磷、镁、铁升高。
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血钾在发热及休克期降低,少尿期升高。
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心肌受损时,血清肌酸磷酸激酶、乳酸脱氢酶和肌红蛋白升高。
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(三)病原学检查病毒分离及鉴定取患者急性期血液、尿液或尸检材料制成10%悬液,接种于敏感单层细胞上,由于CPE不典型,需用免疫荧光法测定细胞内特异性抗原而检出病毒。
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2.病毒抗原检测最早采用免疫荧光法检测组织细胞中的病毒抗原,早期患者白细胞中病毒抗原检出率达90%以上。
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用免疫酶技术检测患者血和体液中病毒抗原敏感性低,早期标本阳性率不足20%,但用于组织内病毒抗原检测,阳性率可达100%。
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3.特异性抗体测定特异性IgM出现早,感染1周后达高峰,维持半年左右,是近期感染的指标;双份血清特异性IgG≥4倍增高有确诊价值。
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检测方法有免疫荧光法和ELISA法,将重组病毒抗原用于ELISA检测,敏感性提高。
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4.病毒基因检测用原位杂交法和RT-PCR技术可检测组织细胞内病毒基因片段。
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后者还是对汉坦病毒分离物进行基因分型的可靠方法之一。
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根据流行病学资料如在流行季节;发病前两个月内有疫区居住或逗留史;临床上有发热和中毒症状,充血、出血、渗出体征,以及肾损害三大主征和病程发展的五期经过,实验室检查有典型血、尿常规和血生化改变可作出临床诊断。
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以发热为主症者,应与流感、钩端螺旋体病、败血症等相鉴别;以休克为主症者应与暴发型流脑、败血症休克、中毒型菌痢等区别;以出血为主症者应与伤寒肠出血,血小板减少性紫癜等相鉴别;以肾功能损害少尿为主症者,应与肾小球肾炎和其他原因引起的急性肾功能不全区别。
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另外,小儿流行性出血热还应与登革出血热(Denguehemorrhagicfever)相鉴别:①登革出血热是由伊蚊传播登革病毒所致,在海南及广东流行。
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②临床上以发热、多形性皮疹、多器官较大量出血为特征。
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病程中可有休克但无肾损害。
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目前国内外已成功研制出3类疫苗,即纯化乳鼠脑灭活疫苗、细胞培养灭活疫苗和基因工程重组载体(活)疫苗。
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纯化乳鼠脑灭活疫苗Ⅲ期临床防病效果观察,保护率为96%。
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两株细胞培养灭活疫苗,即金黄地鼠细胞(GHKC)和长爪沙鼠肾细胞(MGKC)灭活疫苗的Ⅲ期临床预防效果观察,前者保护率为97.63%;后者达95.27%。
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疫苗的应用将会大大降低我国EHF的发病率。
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【治疗】(一)综合疗法应做好“三早一就”(早发现、早休息、早治疗及就近治疗),以液体疗法为主,辅以对症治疗。
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1.发热期治疗卧床休息,给以高热量、高维生素、易消化的食物。
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高热以物理降温为主,体温过高、中毒症状重者给予地塞米松,每次0.2~0.4mg/kg,每4~6小时一次,疗程2~3天或热退即停。
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出血明显可用酚磺乙胺、云南白药或维生素K。
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呕吐不能进食者,给予静脉补液和止吐剂。
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发生DIC时,可尽早试用肝素,低分子右旋糖酐及丹参注射液有抗凝作用,均可应用。
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2.低血压休克期治疗①补充血容量:按早期、快速、适量的原则,液体一般按3∶1的晶胶比例,先晶体后胶体,酌情补钾、钙。
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本期因血液浓缩,不宜用全血;②纠正酸中毒:1.4%~2.5%碳酸氢钠静脉注射或静脉滴注,至酸中毒纠正为止;③强心剂应用:在血容量基本补足情况下,心率仍快则可给予毛花苷丙或毒毛花苷K;④血管活性药物应用:血容量补足,血压仍不稳定者可选用血管活性药物,如多巴胺、间羟胺、异丙基肾上腺素或山莨菪碱等。
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3.少尿期治疗(包括移行阶段和多尿早期)本期主要稳定机体内环境,加强利尿,促进肾功能恢复。
[ { "id": 0, "entity": "尿", "start_offset": 3, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "少尿", "start_offset": 2, "end_offset": 4, "label": "sym" }, { "id": 2, "entity": "尿", "start_offset": 16, "end_offset": 17, "label": "bod" }, { "id": 3, "entity": "多尿", "start_offset": 15, "end_offset": 17, "label": "sym" }, { "id": 4, "entity": "加强利尿", "start_offset": 32, "end_offset": 36, "label": "pro" }, { "id": 5, "entity": "肾", "start_offset": 39, "end_offset": 40, "label": "bod" } ]
(1)稳定机体内环境:①控制氮质血症:给以高糖、高维生素、低蛋白饮食,维持热量;②严格限制入量:每日液体入量=[前一日尿量+每日不显性失水+吐泻丢失量]-内生水量;③维持电解质和酸碱平衡。
[ { "id": 0, "entity": "氮质血症", "start_offset": 14, "end_offset": 18, "label": "dis" }, { "id": 1, "entity": "以高糖、高维生素、低蛋白饮食,维持热量", "start_offset": 20, "end_offset": 39, "label": "pro" }, { "id": 2, "entity": "严格限制入量", "start_offset": 41, "end_offset": 47, "label": "pro" }, { "id": 3, "entity": "维持电解质和酸碱平衡", "start_offset": 83, "end_offset": 93, "label": "pro" } ]
(2)促进利尿:可用呋塞米等利尿剂和血管扩张剂如多巴胺等。
[ { "id": 0, "entity": "利尿", "start_offset": 5, "end_offset": 7, "label": "pro" }, { "id": 1, "entity": "呋塞米", "start_offset": 10, "end_offset": 13, "label": "dru" }, { "id": 2, "entity": "利尿剂", "start_offset": 14, "end_offset": 17, "label": "dru" }, { "id": 3, "entity": "血管扩张剂", "start_offset": 18, "end_offset": 23, "label": "dru" }, { "id": 4, "entity": "多巴胺", "start_offset": 24, "end_offset": 27, "label": "dru" } ]
(3)导泻和放血:有高血容量综合征时,可口服甘露醇粉剂、50%硫酸镁、中药大黄等导泻;出现心衰、肺水肿可考虑放血。
[ { "id": 0, "entity": "导泻", "start_offset": 3, "end_offset": 5, "label": "pro" }, { "id": 1, "entity": "放血", "start_offset": 6, "end_offset": 8, "label": "pro" }, { "id": 2, "entity": "高血容量综合征", "start_offset": 10, "end_offset": 17, "label": "dis" }, { "id": 3, "entity": "甘露醇粉剂", "start_offset": 22, "end_offset": 27, "label": "dru" }, { "id": 4, "entity": "硫酸镁", "start_offset": 31, "end_offset": 34, "label": "dru" }, { "id": 5, "entity": "中药大黄", "start_offset": 35, "end_offset": 39, "label": "dru" }, { "id": 6, "entity": "导泻", "start_offset": 40, "end_offset": 42, "label": "pro" }, { "id": 7, "entity": "心衰", "start_offset": 45, "end_offset": 47, "label": "sym" }, { "id": 8, "entity": "肺", "start_offset": 48, "end_offset": 49, "label": "bod" }, { "id": 9, "entity": "肺水肿", "start_offset": 48, "end_offset": 51, "label": "sym" }, { "id": 10, "entity": "放血", "start_offset": 54, "end_offset": 56, "label": "pro" } ]
(4)透析疗法:凡有明显氮质血症、高血钾、高血容量综合征者,可采用腹膜或血液透析治疗。
[ { "id": 0, "entity": "透析", "start_offset": 3, "end_offset": 5, "label": "pro" }, { "id": 1, "entity": "氮质血症", "start_offset": 12, "end_offset": 16, "label": "dis" }, { "id": 2, "entity": "高血钾", "start_offset": 17, "end_offset": 20, "label": "dis" }, { "id": 3, "entity": "高血容量综合征", "start_offset": 21, "end_offset": 28, "label": "dis" }, { "id": 4, "entity": "腹膜或血液透析", "start_offset": 33, "end_offset": 40, "label": "pro" } ]
4.多尿期治疗主要保持水、电解质平衡,防止继发感染。
[ { "id": 0, "entity": "尿", "start_offset": 3, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "多尿", "start_offset": 2, "end_offset": 4, "label": "sym" }, { "id": 2, "entity": "保持水、电解质平衡", "start_offset": 9, "end_offset": 18, "label": "pro" } ]
随着尿量的增加适当补充液体和电解质,防止第二次肾衰竭,补液以口服为主。
[ { "id": 0, "entity": "补充液体和电解质", "start_offset": 9, "end_offset": 17, "label": "pro" }, { "id": 1, "entity": "肾衰竭", "start_offset": 23, "end_offset": 26, "label": "sym" }, { "id": 2, "entity": "口服", "start_offset": 30, "end_offset": 32, "label": "pro" } ]
蛋白质宜逐步增加,以防止多尿性氮质血症。
[ { "id": 0, "entity": "蛋白质宜逐步增加", "start_offset": 0, "end_offset": 8, "label": "pro" }, { "id": 1, "entity": "多尿性氮质血症", "start_offset": 12, "end_offset": 19, "label": "dis" } ]
5.恢复期治疗补充营养,逐步恢复活动。
[ { "id": 0, "entity": "补充营养", "start_offset": 7, "end_offset": 11, "label": "pro" }, { "id": 1, "entity": "逐步恢复活动", "start_offset": 12, "end_offset": 18, "label": "pro" } ]
6.其他对症治疗肾破裂时及时手术治疗;高血容量综合征、高血钾、心衰、肺水肿、呼吸衰竭、中枢神经并发症及腔道出血时及时采取有力抢救措施。
[ { "id": 0, "entity": "肾", "start_offset": 8, "end_offset": 9, "label": "bod" }, { "id": 1, "entity": "肾破裂", "start_offset": 8, "end_offset": 11, "label": "sym" }, { "id": 2, "entity": "手术", "start_offset": 14, "end_offset": 16, "label": "pro" }, { "id": 3, "entity": "高血容量综合征", "start_offset": 19, "end_offset": 26, "label": "dis" }, { "id": 4, "entity": "高血钾", "start_offset": 27, "end_offset": 30, "label": "sym" }, { "id": 5, "entity": "心衰", "start_offset": 31, "end_offset": 33, "label": "sym" }, { "id": 6, "entity": "肺", "start_offset": 34, "end_offset": 35, "label": "bod" }, { "id": 7, "entity": "肺水肿", "start_offset": 34, "end_offset": 37, "label": "sym" }, { "id": 8, "entity": "呼吸衰竭", "start_offset": 38, "end_offset": 42, "label": "sym" }, { "id": 9, "entity": "中枢神经", "start_offset": 43, "end_offset": 47, "label": "bod" }, { "id": 10, "entity": "中枢神经并发症", "start_offset": 43, "end_offset": 50, "label": "sym" }, { "id": 11, "entity": "腔道", "start_offset": 51, "end_offset": 53, "label": "bod" }, { "id": 12, "entity": "腔道出血", "start_offset": 51, "end_offset": 55, "label": "sym" } ]
(二)抗病毒治疗1.利巴韦林(ribavirin)是我国学者首先找到的抗汉坦病毒药物,早期应用(病程头4天内)效佳。
[ { "id": 0, "entity": "利巴韦林", "start_offset": 10, "end_offset": 14, "label": "dru" }, { "id": 1, "entity": "ribavirin", "start_offset": 15, "end_offset": 24, "label": "dru" }, { "id": 2, "entity": "抗汉坦病毒药物", "start_offset": 35, "end_offset": 42, "label": "dru" } ]
有两种治疗方案:①大剂量疗法:首剂33mg/kg,以后16mg/kg,6小时一次,连续4天,第5~7天8mg/kg,8小时一次,静脉滴注,可将病死率降至<2%。
[ { "id": 0, "entity": "静脉滴注", "start_offset": 64, "end_offset": 68, "label": "pro" } ]
副作用有可逆性骨髓抑制和红细胞减少。
[ { "id": 0, "entity": "骨髓", "start_offset": 7, "end_offset": 9, "label": "bod" }, { "id": 1, "entity": "可逆性骨髓抑制", "start_offset": 4, "end_offset": 11, "label": "sym" }, { "id": 2, "entity": "红细胞", "start_offset": 12, "end_offset": 15, "label": "bod" }, { "id": 3, "entity": "红细胞减少", "start_offset": 12, "end_offset": 17, "label": "sym" } ]
②小剂量疗法:按10~15mg/(kg•d)或700~750mg/d静脉滴注,疗程3天,可改善症状,降低病死率,无不良反应。
[ { "id": 0, "entity": "静脉滴注", "start_offset": 34, "end_offset": 38, "label": "pro" } ]
但患者体内病毒是否被清除尚未证实。
[ { "id": 0, "entity": "病毒", "start_offset": 5, "end_offset": 7, "label": "mic" } ]
此外,利巴韦林治疗汉坦病毒肺综合征(HPS)无明显疗效,可能与该病进展快速有关。
[ { "id": 0, "entity": "利巴韦林", "start_offset": 3, "end_offset": 7, "label": "dru" }, { "id": 1, "entity": "汉坦病毒肺综合征", "start_offset": 9, "end_offset": 17, "label": "dis" }, { "id": 2, "entity": "HPS", "start_offset": 18, "end_offset": 21, "label": "dis" } ]
2.干扰素体外有抗病毒作用,体内疗效尚在评价中。
[ { "id": 0, "entity": "干扰素", "start_offset": 2, "end_offset": 5, "label": "dru" }, { "id": 1, "entity": "病毒", "start_offset": 9, "end_offset": 11, "label": "mic" } ]
第二节面肩肱型肌营养不良面肩肱型肌营养不良(facioscapulohumeraldystrophy,FSHD)是常染色体显性遗传病,发病率约为1∶20000。
[ { "id": 0, "entity": "面肩肱型肌营养不良", "start_offset": 3, "end_offset": 12, "label": "dis" }, { "id": 1, "entity": "面肩肱型肌营养不良", "start_offset": 12, "end_offset": 21, "label": "dis" }, { "id": 2, "entity": "facioscapulohumeraldystrophy", "start_offset": 22, "end_offset": 50, "label": "dis" }, { "id": 3, "entity": "FSHD", "start_offset": 51, "end_offset": 55, "label": "dis" }, { "id": 4, "entity": "常染色体显性遗传病", "start_offset": 57, "end_offset": 66, "label": "dis" } ]
【发病机制】Wijmenga等首先证实,FSHD基因定位于4号染色体上,进一步的研究还表明定位于4q35。
[ { "id": 0, "entity": "FSHD基因", "start_offset": 20, "end_offset": 26, "label": "bod" }, { "id": 1, "entity": "4号染色体", "start_offset": 29, "end_offset": 34, "label": "bod" }, { "id": 2, "entity": "4q35", "start_offset": 48, "end_offset": 52, "label": "bod" } ]
1992年,研究发现经EcoR1酶切后的片段中,用特异性探针(p13E-11)可检测到一个比正常人群短的DNA片段。
[ { "id": 0, "entity": "EcoR1酶", "start_offset": 11, "end_offset": 17, "label": "bod" }, { "id": 1, "entity": "特异性探针", "start_offset": 25, "end_offset": 30, "label": "equ" }, { "id": 2, "entity": "p13E-11", "start_offset": 31, "end_offset": 38, "label": "equ" }, { "id": 3, "entity": "DNA", "start_offset": 52, "end_offset": 55, "label": "bod" } ]
约85%~95%临床诊断为FSHD患者(无论是家族性还是散发性),都证实有短片段存在。
[ { "id": 0, "entity": "FSHD", "start_offset": 13, "end_offset": 17, "label": "dis" } ]
许多研究表明,4q35区的缺失越大(形成的短片段越小),临床表现越严重。
[ { "id": 0, "entity": "4q35", "start_offset": 7, "end_offset": 11, "label": "bod" } ]
虽然4q35短片段与FSHD的关系已明确,但精确的基因定位或这种缺陷影响的基因还未明确,缺失与疾病的确切关系至今未明。
[ { "id": 0, "entity": "4q35", "start_offset": 2, "end_offset": 6, "label": "bod" }, { "id": 1, "entity": "FSHD", "start_offset": 10, "end_offset": 14, "label": "dis" } ]
位置变异效应假说认为,此区域的串联重复序列缺失可能影响邻近基因(包括FSHD基因)的表达。
[ { "id": 0, "entity": "FSHD", "start_offset": 34, "end_offset": 38, "label": "dis" } ]
一些FSHD患者在缺失位点邻近区域有重组现象,支持了以上假说。
[ { "id": 0, "entity": "FSHD", "start_offset": 2, "end_offset": 6, "label": "dis" } ]
因此目前研究已转向确立4号染色体上邻近FSHD区域的基因及其特性。
[ { "id": 0, "entity": "4号染色体", "start_offset": 11, "end_offset": 16, "label": "bod" }, { "id": 1, "entity": "FSHD", "start_offset": 19, "end_offset": 23, "label": "dis" } ]
另外,一些FSHD的家族患者与4号染色体无关,这说明其具有遗传异质性。
[ { "id": 0, "entity": "FSHD", "start_offset": 5, "end_offset": 9, "label": "dis" }, { "id": 1, "entity": "4号染色体", "start_offset": 15, "end_offset": 20, "label": "bod" } ]
【临床表现】本病患者肌无力主要累及面肌及肩胛肌群。
[ { "id": 0, "entity": "肌无力", "start_offset": 10, "end_offset": 13, "label": "dis" }, { "id": 1, "entity": "面肌", "start_offset": 17, "end_offset": 19, "label": "bod" }, { "id": 2, "entity": "肩胛肌群", "start_offset": 20, "end_offset": 24, "label": "bod" } ]
面肌主要累及眼轮匝肌和口轮匝肌,常为非对称性,患者出现奇怪的扭曲笑容,口角处出现凹陷无法撅嘴面部表情抑郁、平淡当要求患者吹口哨时,嘴唇常特征性地呈横向或水平位患者不能完全闭紧眼睛眼睑很容易睁开肩胛带肌肉包括背阔肌、斜方肌、菱形肌以及前锯肌。
[ { "id": 0, "entity": "面肌", "start_offset": 0, "end_offset": 2, "label": "bod" }, { "id": 1, "entity": "眼轮匝肌", "start_offset": 6, "end_offset": 10, "label": "bod" }, { "id": 2, "entity": "口轮匝肌", "start_offset": 11, "end_offset": 15, "label": "bod" }, { "id": 3, "entity": "扭曲笑容", "start_offset": 30, "end_offset": 34, "label": "sym" }, { "id": 4, "entity": "口角", "start_offset": 35, "end_offset": 37, "label": "bod" }, { "id": 5, "entity": "口角处出现凹陷", "start_offset": 35, "end_offset": 42, "label": "sym" }, { "id": 6, "entity": "嘴", "start_offset": 45, "end_offset": 46, "label": "bod" }, { "id": 7, "entity": "无法撅嘴", "start_offset": 42, "end_offset": 46, "label": "sym" }, { "id": 8, "entity": "面部", "start_offset": 46, "end_offset": 48, "label": "bod" }, { "id": 9, "entity": "面部表情抑郁、平淡", "start_offset": 46, "end_offset": 55, "label": "sym" }, { "id": 10, "entity": "嘴唇", "start_offset": 65, "end_offset": 67, "label": "bod" }, { "id": 11, "entity": "当要求患者吹口哨时,嘴唇常特征性地呈横向或水平位", "start_offset": 55, "end_offset": 79, "label": "sym" }, { "id": 12, "entity": "眼睛", "start_offset": 87, "end_offset": 89, "label": "bod" }, { "id": 13, "entity": "患者不能完全闭紧眼睛", "start_offset": 79, "end_offset": 89, "label": "sym" }, { "id": 14, "entity": "眼睑", "start_offset": 89, "end_offset": 91, "label": "bod" }, { "id": 15, "entity": "眼睑很容易睁开", "start_offset": 89, "end_offset": 96, "label": "sym" }, { "id": 16, "entity": "肩胛带肌肉", "start_offset": 96, "end_offset": 101, "label": "bod" }, { "id": 17, "entity": "背阔肌", "start_offset": 103, "end_offset": 106, "label": "bod" }, { "id": 18, "entity": "斜方肌", "start_offset": 107, "end_offset": 110, "label": "bod" }, { "id": 19, "entity": "菱形肌", "start_offset": 111, "end_offset": 114, "label": "bod" }, { "id": 20, "entity": "前锯肌", "start_offset": 116, "end_offset": 119, "label": "bod" } ]
静止时,患者表现为斜肩姿势肩膀前转肩胛骨上升前臂上移或外展时,肩胛骨常常向前外向转动活动障碍,尤其是那些需应用肩胛肌肉的活动,如爬树、挥动高尔夫球棒以及投掷垒球等。
[ { "id": 0, "entity": "肩", "start_offset": 10, "end_offset": 11, "label": "bod" }, { "id": 1, "entity": "斜肩姿势", "start_offset": 9, "end_offset": 13, "label": "sym" }, { "id": 2, "entity": "肩", "start_offset": 13, "end_offset": 14, "label": "bod" }, { "id": 3, "entity": "膀", "start_offset": 14, "end_offset": 15, "label": "bod" }, { "id": 4, "entity": "肩膀前转", "start_offset": 13, "end_offset": 17, "label": "sym" }, { "id": 5, "entity": "肩胛骨", "start_offset": 17, "end_offset": 20, "label": "bod" }, { "id": 6, "entity": "肩胛骨上升", "start_offset": 17, "end_offset": 22, "label": "sym" }, { "id": 7, "entity": "肩胛骨", "start_offset": 31, "end_offset": 34, "label": "bod" }, { "id": 8, "entity": "前臂上移或外展时,肩胛骨常常向前外向转动", "start_offset": 22, "end_offset": 42, "label": "sym" }, { "id": 9, "entity": "活动障碍", "start_offset": 42, "end_offset": 46, "label": "sym" }, { "id": 10, "entity": "肩胛肌肉", "start_offset": 55, "end_offset": 59, "label": "bod" } ]
约有1/3的患者无症状,仅能依据体格检查进行诊断。
[ { "id": 0, "entity": "体格检查", "start_offset": 16, "end_offset": 20, "label": "pro" } ]
腹壁肌肉在疾病早期即可受累,但往往到疾病晚期才引起注意。
[ { "id": 0, "entity": "腹壁肌肉", "start_offset": 0, "end_offset": 4, "label": "bod" } ]
典型的表现是腹壁下部肌肉严重受累引起腹部突出Beevor征(患者在仰卧时屈曲颈部脐部可向上偶尔也会向下移动),它可作为可疑患者的一个早期表现,因为其他肌肉性疾病很少出现这种表现。
[ { "id": 0, "entity": "腹壁", "start_offset": 6, "end_offset": 8, "label": "bod" }, { "id": 1, "entity": "肌肉", "start_offset": 10, "end_offset": 12, "label": "bod" }, { "id": 2, "entity": "腹壁下部肌肉严重受累", "start_offset": 6, "end_offset": 16, "label": "sym" }, { "id": 3, "entity": "腹部", "start_offset": 18, "end_offset": 20, "label": "bod" }, { "id": 4, "entity": "引起腹部突出", "start_offset": 16, "end_offset": 22, "label": "sym" }, { "id": 5, "entity": "Beevor征", "start_offset": 22, "end_offset": 29, "label": "dis" }, { "id": 6, "entity": "颈部", "start_offset": 38, "end_offset": 40, "label": "bod" }, { "id": 7, "entity": "在仰卧时屈曲颈部", "start_offset": 32, "end_offset": 40, "label": "sym" }, { "id": 8, "entity": "脐部", "start_offset": 40, "end_offset": 42, "label": "bod" }, { "id": 9, "entity": "脐部可向上", "start_offset": 40, "end_offset": 45, "label": "sym" }, { "id": 10, "entity": "偶尔也会向下移动", "start_offset": 45, "end_offset": 53, "label": "sym" }, { "id": 11, "entity": "肌肉性疾病", "start_offset": 75, "end_offset": 80, "label": "dis" } ]
大腿远端前群肌常常受累最早、最严重行走时足部拖地明显的足下垂导致频繁的摔倒或者行走不稳。
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少数情况下,患者可出现较严重的骨盆肢带肌无力髋部屈肌和外展肌,造成早期相对较重的步态不稳。
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患者延髓肌、咽肌、眼外肌和呼吸肌一般不受累,吞咽功能不受影响没有明显肌肉外受累表现高频性耳聋以及视网膜血管异常在FSHD人群中的发病率正逐渐上升,但常无临床意义。
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许多研究发现FSHD患者有发生房性心律紊乱实验室检查主要实验室指标如下:1.血清CK约75%患者血清CK升高,但常常为中度升高。
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2.肌电图大多数患者临床受累的肌肉出现明显的多相低振幅短时相的动作单位电位肌肉活体组织检查肌肉活体组织检查对于疑似FSHD,尤其是家族史不确切的患者至关重要。
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常显示不同程度的改变,包括纤维直径的不同出现角形纤维中央核纤维坏死纤维再生纤维肥大纤维单核炎症细胞浸润明显的脂肪浸润和结缔组织增殖基因诊断基因检测不失为一种有用的诊断手段。
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FSHD的基因定位于4q35,4q35基因缺失具有较高的敏感性和特异性,通过检测可疑患者4q35短片段,基本可以作出诊断。
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【治疗】目前尚无特殊的治疗,支持治疗是主要治疗手段。
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由于受累的肌肉不同,患者容易出现肩部、背部、腹部及腿部疼痛保守治疗包括非甾体类抗炎药、适当的运动锻炼以及理疗可以缓解一些不适主诉。
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定做的塑料踝-足矫正器,可以减轻足下垂伴有明显腹部或者下背部疼痛腰背紧身胸衣或腹带,为无力的腹部肌肉群提供支撑。
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目前尚无药物可改善FSHD患者的肌力或延缓疾病的进展。
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