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Bartter syndrome

Friday 18 March 2005

Types

- Bartter syndrome type 1 (MIM.601678): loss-of-function mutations in the butmetanide-sensitive sodium-potassium-chloride cotransporter-2 gene (SLC12A1) (MIM.600839)
- Bartter syndrome type 2 (MIM.241200): loss-of-function mutation in the potassium channel ROMK1 gene (KCNJ1) (MIM.600359)
- Bartter syndrome type 3 (classic Bartter syndrome) (MIM.607364): mutation in the kidney chloride channel B gene (CLCNKB) (MIM.602023)
- Bartter syndrome type 4 (infantile Bartter syndrome with sensorineural deafness) (MIM.602522): mutation in the BSND gene (MIM.606412) or by simultaneous mutation in both the CLCNKA (MIM.602024) and CLCNKB (MIM.602023) genes.
- Gitelman variant of Bartter syndrome (MIM.263800): mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (MIM.600968).

Synopsis

- nephrocalcinosis