Table 1.
Subtypes | Gene loci | Molecule affected | Molecule implicated | Site in renal tubule | Pharmacological classification | Important clinical features |
---|---|---|---|---|---|---|
Antenatal Bartter syndrome | I (601678) | SLC12A1/15q21.1 | Na-K-2Cl cotransporter | TAL | Pure frusemide type | Severe maternal polyhydramnios, hypercalciuria, nephrocalcinosis |
Antenatal Bartter syndrome | II (241200) | KCNJ1/11q24 | Kir1.1 potassium channel | TAL | Thiazide type | Hypochloremia, hypomagnesemia, failure to thrive in infancy, EAST syndrome |
Classic Bartter | III (602522) | CLCNKB/1p36 | ClC-Kb chloride channel | DCT | Thiazide type | Hypomagnesemia, hypocalciuria, EAST syndrome |
Bartter syndrome with senosorineural deafness | IV (606412) | BSND/1p31 or CLCNKA- CLCNKB/1p36 | Barttin, ClC-Ka and ClC-Kb chloride channels | TAL+DCT | Thiazide-frusemide type | Polyuria, hypochloremia, mild hypomagnesemia, SND, CRF |
TAL: thick ascending loop of Henle, TAL: thin ascending loop of Henle, DCT: distal cortical tubule, EAST syndrome: epilepsy, ataxia, sensorineural deafness, tubulopathy, SND: sensorineural deafness, and CRF: chronic renal failure.