Mode of Inheritance

Variants of inherited hypokalemic tubulopathies follow autosomal recessive inheritance and share characteristic clinical features: renal salt-wasting, hypokalemic metabolic alkalosis, and normotensive hyperreninemic hyperaldosteronism. The neonatal variant of Bartter syndrome can be now classified genetically into four subtypes. In type I Bartter syndrome, the sodium potassium-2 chloride (NKCC2) luminal channel is mutated. In type II Bartter syndrome, the luminal ROMK potassium channel is affected. Type III Bartter syndrome is related to mutations in the basolateral ClC-Kb chloride channel. The recently identified form of Bartter syndrome includes infants with uniformly concomitant sensorineural deafness (BSND), a condition originally described in an Arab Bedouin kindred