Skip to main content
. 2012 Feb 28;2012:857136. doi: 10.1155/2012/857136

Table 1.

Pharmacological classification of Bartter syndrome with important clinical features.

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.