Novel Variant in CLDN16: A Further Step in the Diagnosis of Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis—A Case Report

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare tubulopathy characterized by renal loss of calcium magnesium leading to progressive failure. The disorder caused variants the tight junction proteins claudin-16 -19. While rare, this causes significant burden patients based on its clinical manifestations various electrolyte abnormalities, nephrocalcinosis, early progression In report we describe diagnosis novel variant CLDN16 which clinically presented severe hypomagnesemia, hypocalcemia,