Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
M Konrad, M Vollmer, HH Lemmink… - Journal of the …, 2000 - journals.lww.com
Inherited hypokalemic renal tubulopathies are differentiated into at least three clinical
subtypes:(1) the Gitelman variant of Bartter syndrome (GS);(2) hyperprostaglandin E
syndrome, the antenatal variant of Bartter syndrome (HPS/aBS); and (3) the classic Bartter
syndrome (cBS). Hypokalemic metabolic alkalosis and renal salt wasting are the common
characteristics of all three subtypes. Hypocalciuria and hypomagnesemia are specific
clinical features of Gitelman syndrome, while HPS/aBS is a life-threatening disorder of the …
subtypes:(1) the Gitelman variant of Bartter syndrome (GS);(2) hyperprostaglandin E
syndrome, the antenatal variant of Bartter syndrome (HPS/aBS); and (3) the classic Bartter
syndrome (cBS). Hypokalemic metabolic alkalosis and renal salt wasting are the common
characteristics of all three subtypes. Hypocalciuria and hypomagnesemia are specific
clinical features of Gitelman syndrome, while HPS/aBS is a life-threatening disorder of the …