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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.