International Journal of Pediatrics / 2012 / Article / Tab 1

Review Article

Antenatal Bartter Syndrome: A Review

Table 1

Pharmacological classification of Bartter syndrome with important clinical features.

SubtypesGene lociMolecule affectedMolecule implicatedSite in renal tubulePharmacological classification Important clinical features

Antenatal Bartter syndromeI (601678)SLC12A1/15q21.1Na-K-2Cl cotransporterTALPure frusemide typeSevere maternal polyhydramnios, hypercalciuria, nephrocalcinosis
Antenatal Bartter syndromeII (241200)KCNJ1/11q24Kir1.1 potassium channelTALThiazide typeHypochloremia, hypomagnesemia, failure to thrive in infancy, EAST syndrome
Classic BartterIII (602522)CLCNKB/1p36ClC-Kb chloride channelDCTThiazide typeHypomagnesemia, hypocalciuria, EAST syndrome
Bartter syndrome with senosorineural deafnessIV (606412)BSND/1p31 or CLCNKA- CLCNKB/1p36Barttin, ClC-Ka and ClC-Kb chloride channelsTAL+DCTThiazide-frusemide typePolyuria, 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.

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