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Table 1 Genetics and presentation of Bartter and Gitelman syndromes

From: Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene

Disorder

Gene affected

Gene product

Clinical presentation

Bartter syndrome type I

SLC12A1

NKCC2

Antenatal Bartter syndrome (Hyperprostaglandin E syndrome)

Bartter syndrome type II

KCNJ1

ROMK

Antenatal Bartter syndrome

Bartter syndrome type III

CLCKB

CLC-Kb

Hypochloremia., mild hypomagnesemia, FTT in infancy

Bartter syndrome type IVA

BSND

Barttin (B-subunit of CLC-Ka and CLC-Kb)

Antenatal Bartter syndrome (Hyperprostaglandin E syndrome) and sensorineural deafness

Bartter syndrome type IVB

CLCNKA and CLCNKB

CLC-Ka and CLC-Kb

Antenatal Bartter syndrome (Hyperprostaglandin E syndrome) and sensorineural deafness

Bartter syndrome type V

CaSR gene

CaSR

Bartter syndrome with hypocalcemia

Gitelman syndrome

SLC12A3

NCC (thiazide- sensitive NaCl co-transporter).

Hypomagnesemia, hypocalcuria, growth retardation

  1. There are six Bartter syndrome subtypes (I, II, III, IV, IVB, and V) corresponding to six genetic defects. NKCC2: furosemide-sensitive sodium-potassium-2 chloride cotransporter; ROMK: renal outer medullary potassium channel; CLC-Kb: chloride channel Kb; CLC-Ka: chloride channel Ka; CaSR: calcium sensing receptor; NCCT: thiazide-sensitive sodium-chloride cotransporter. Modified from Seybrerth et al. (Jeck et al. 2004) Jan.