A Report of Claudin-19 Mutation Causing Nephrocalcinosis and End-Stage Kidney Disease from Iran.

Abstract excerpt

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive disorder that affect children and young adults. Mutation in gene that coding the tight junction proteins Claudin-16 and Claudin-19(CLDN19) is responsible of this rare disorder. Hypomagnesemia, hypercalciuria, kidney failure and visual impairment (in CLDN 19 gene mutation) are the most common presentations of FHHNC....

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