tubulopathy tubulopathy tubulopathy is a disease affecting the renal tubules of the nephron. tubulopathyspecialtyurology tubulopathic processes may be inflammatory or noninflammatory, though inflammatory processes are often referred to specifically as tubulitis. characteristics of some inherited tubulopathies disorder protein defectchromosome localizationinheritanceclinical features/notesbiochemical features proximal tubule lowe's syndrome (oculocerebral dystrophy ocrl1xq26.1xrhydrophthalmia, cataract, mental retardation, hyporeflexia, hypotonia and progressive kidney failure, normotensiveplasma: ↓k, ↓co2; urine: ↑lmwp, ↑aa, ↑po4, ↑k wilson's disease atp7b13q14.3-q21.1arliver disease or neurologic symptoms, or both, kayser-fleischer rings, normotensiveplasma: ↑free copper, abnormal lfts; urine: ↑copper excretion, ↑lmwp, ↑aa, ↑po4, ↑glycosuria dent's disease (x-linked recessive hypophophatemic rickets)clcn5xp11.22xrnephrocalcinosis, nephrolithiasis, rachitic and osteomalacic bone disease, progressive kidney failure, normotensiveplasma: ↓po4, n/↓k; urine: ↑lmwp, ↑aa, ↑k, ↑ca, ↑po4, ↑glycosuria x-linked dominant hypophosphatemic rickets [307800phexxp22.2-p22.1xdgrowth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal defects in phosphate reabsorption and vitamin d metabolismplasma: ↓po4, ↑alp; urine: ↑po4 loop of henle bartter's syndromenkcc2 (type 1)15q15-21.1arpolyuria, 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 romk (type 2)11q24ar c1c-kb (type 3, classic)1p36ar 1p31ar barttin (type 4) hypomagnesemic hypercalciuric nephrocalcinosis (magnesium-losing kidney)pcln13q27arnephrocalcinosis, renal failure, ocular/hearing defects, polyruria, polydipsia, recurrent urinary tract infections, recurrent renal colic, normotensiveplasma: ↓mg, ↑pth; urine: ↑ca, ↑mg distal tubule/collecting duct liddle's syndrome enac (activating)16p13-p12adearly, and frequently severe, hypertension, strokeplasma: ↓renin, ↓k, ↓mg, ↑co2; urine: ↑k pseudohypoaldosteronism type 1a enac (inactivating)12p13, 16p13-p12arpresents in infancy with salt-wasting and hypotension, cough, respiratory infectionsplasma: ↑renin, ↓na, ↑k, ↓co2; urine: ↑k pseudohypoaldosteronism type 1b mineralocorticoid receptor4q31.1adpresents in infancy with salt-wasting and hypotension. milder than type 1a and remits with ageplasma: ↑renin, ↓na, ↑k, ↓co2; urine: ↑k pseudohypoaldosteronism type 2 (gordon's syndrome) unknown (?wnk)1q31-q42, 12p13, 17q21-q22adhypertension (± muscle weakness, short stature, intellectual impairment). correction of physiologic abnormalities by thiazide diureticsplasma: ↓renin, ↑k, ↓co2, ↑cl; urine: ↓k gitelman's syndrome ncct16q13arhypotension, weakness, paresthesias, tetany, fatigue, and salt craving, presentation generally much later in life than in bartter's and hypocalciuria is typicalplasma: ↑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 v2 receptorxq28xrhyperthermia, polyuria, polydipsia, dehydration, inability to form concentrated urine, intellectual disability if diagnosis delayed. symptoms in infancyhyperosmolar plasma, dilute urine autosomal dominant nephrogenic diabetes insipidus type 2 aqp212q13ad and arpolyuria, polydipsia, dehydration, inability to form concentrated urine. symptoms after first year of lifehyperosmolar 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