| Tubulopathy |
Tubulopathy is a disease affecting the renal tubules of the nephron.
Tubulopathic processes may be inflammatory or noninflammatory, though inflammatory processes are often referred to specifically as tubulitis.[1] [2]
| 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 | Plasma: ↓K, ↓CO2; Urine: ↑LMWP, ↑AA, ↑PO4, ↑K | |
| Wilson's disease [277900] | ATP7B | 13q14.3-q21.1 | AR | 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 | 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 ||rowspan="5"|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, intellectual disability 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 hormoneExternal links |