A. T. al Qahtani

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) with ocular involvement due to a novel CLDN19 variant.

Claudin-16 (CLDN16) and claudin-19 (CLDN19) are essential tight junction proteins in the kidney that are critical for magnesium homeostasis. Mutations in CLDN16 and CLDN19 cause Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC), a rare autosomal recessive tubular disorder. The disorder can progre...