Key result
A novel CLCNKB gene mutation was identified in an Iranian family diagnosed with Bartter syndrome type 3.
Identifies a novel CLCNKB mutation associated with Bartter Syndrome Type 3 in an Iranian family.
Does not change clinical management; leaves open broader pathogenicity and prevalence of this CLCNKB variant.
Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene.
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Mohammadi‐Asl et al. (2022) studied this question. A novel CLCNKB gene mutation was identified in an Iranian family diagnosed with Bartter syndrome type 3.
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