NIH R01 · 2024
Exploring the pathogenesis of classic Bartter syndrome
Bartter syndrome (BS) is a congenital renal tubulopathy caused by mutations of transporters impairing NaCl reabsorption in the thick ascending limb of Henle's loop (TAL). Antenatal BS is caused by mutations of NKCC2 or ROMK in the apical membrane of TAL. Classic Bartter’s (cBS) is due to mutations of the basolateral chloride channel ClC-Kb, presenting highly variable phenotypes and renal outcomes. As opposed to the prevailing view that salt wasting in BS is due to loss of function of transporters in mature TAL, we recently reported that the phenotype of cBS in Clc-k2-/- (mouse ortholog of ClC-Kb) mice is mainly due to developmental defects in the inner medulla and TAL hypoplasia. How Clc-k2…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.