<unk>  is a disease affecting the renal tubules of the nephron.<unk> c processes may be inflammatory or noninflammatory, though inflammatory processes are often referred to specifically as tubulitis. + Characteristics of Some Inherited<unk> es Disorder OMIM Number Protein Defect Chromosome Localization Inheritance Clinical Features/Notes Biochemical Features Proximal Tubule Lowe's syndrome (oculocerebral dystrophy 309000 OCRL1 Xq26.1 XR Hydrophthalmia, cataract, mental retardation, hyporeflexia, hypotonia and progressive kidney failure, normotensive Plasma: ↓K, ↓CO2; Urine: ↑LMWP, ↑AA, ↑PO4, ↑K Wilson's disease 277900 ATP7B 13q14.3-q21.1 AR Liver disease or neurologic symptoms, or both, Kayser-Fleischer rings, normotensive Plasma: ↑free copper, abnormal LFTs; Urine: ↑copper excretion, ↑LMWP, ↑AA, ↑PO4, ↑Glycosuria Dent's disease (X-linked recessive hypophophatemic rickets)300009 CLCN5 Xp11.22 XR Nephrocalcinosis, nephrolithiasis, rachitic and osteomalacic bone disease, progressive kidney failure, normotensive Plasma: ↓PO4, N/↓K; Urine: ↑LMWP, ↑AA, ↑K, ↑Ca, ↑PO4, ↑Glycosuria X-linked dominant hypophosphatemic rickets 307800 PHEX Xp22.2-p22.1 XD Growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal defects in phosphate reabsorption and vitamin D metabolism Plasma: ↓PO4, ↑ALP; Urine: ↑PO4 Loop of Henle Bartter's syndrome NKCC2 (type 1) 15q15-21.1 AR Polyuria, polydipsia, muscle weakness, hypovolemia, normotensive or hypotensive (all types). Maternal polyhydramnios, premature birth, perinatal salt wasting, nephrocalcinosis and kidney stones (type 1 and 2), milder phenotype with normocalciuria(type 3), sensorineural deafness, motor retardation, renal failure (type 4) Plasma: ↑renin, ↓K, ↑CO2, mild ↓Mg in some patients; Urine: ↑Ca 601678 ROMK (type 2) 11q24 AR 241200 C1C-Kb (type 3, classic) 1p36 AR 607364 1p31 AR 602522 Barttin (type 4) Hypomagnesemic hypercalciuric nephrocalcinosis (magnesium-losing kidney)248250 PCLN1 3q27 AR Nephrocalcinosis, renal failure, ocular/hearing defects, polyruria, polydipsia, recurrent urinary tract infections, recurrent renal colic, normotensive Plasma: ↓Mg, ↑PTH; Urine: ↑Ca, ↑Mg Distal Tubule/Collecting Duct Liddle's syndrome 177200 ENaC (activating) 16p13-p12 AD Early, and frequently severe, hypertension, stroke Plasma: ↓renin, ↓K, ↓Mg, ↑CO2; Urine: ↑K Pseudohypoaldosteronism type 1a 264350 ENaC (inactivating) 12p13, 16p13-p12 AR Presents in infancy with salt-wasting and hypotension, Cough, respiratory infections Plasma: ↑renin, ↓Na, ↑K, ↓CO2; Urine: ↑K Pseudohypoaldosteronism type 1b 177735 Mineralocorticoid receptor 4q31.1 AD Presents in infancy with salt-wasting and hypotension. Milder than type 1a and remits with age Plasma: ↑renin, ↓Na, ↑K, ↓CO2; Urine: ↑K Pseudohypoaldosteronism type 2 (Gordon's syndrome) 145260 Unknown (?WNK) 1q31-q42, 12p13, 17q21-q22 AD Hypertension (± muscle weakness, short stature, intellectual impairment). Correction of physiologic abnormalities by thiazide diuretics Plasma: ↓renin, ↑K, ↓CO2, ↑Cl; Urine: ↓K Gitelman's syndrome 263800 NCCT 16q13 AR Hypotension, weakness, paresthesias, tetany, fatigue, and salt craving, Presentation generally much later in life than in Bartter's and hypocalciuria is typical Plasma: ↑renin, ↓K, ↓Mg, ↑CO2; Urine: ↓calcium:creatinine excretion ratio (useful in distinguishing Gitelman's and Bartter's)(Note: biochemically can mimic thiazide use) X-linked nephrogenic diabetes insipidus type 1 304800 V2 receptor Xq28 XR Hyperthermia, polyuria, polydipsia, dehydration, inability to form concentrated urine, mental retardation if diagnosis delayed. Symptoms in infancy Hyperosmolar plasma, dilute urine Autosomal dominant nephrogenic diabetes insipidus type 2 192340 AQP2 12q13 AD and AR Polyuria, polydipsia, dehydration, inability to form concentrated urine. Symptoms after first year of life Hyperosmolar plasma, dilute urine AA: Aminoaciduria; AD:autosomal dominant; AR: autosomal recessive; LFT's: Liver function tests; LMWP: low molecular weight proteinuria; XD: X-linked dominant; XR: X-linked recessive; PTH: Parathyroid hormone
Tubulopathy
Endometritis
Pelvic inflammatory disease
Prostatitis
Ureteral cancer
Ovarian disease
Pelvic tumor
Urethral cancer