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

Abstract

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. Here we present a 31-year-old woman with end-stage kidney disease (ESKD) on routine hemodialysis for the past eight years and was referred to Firoozgar nephrology clinic for kidney transplantation. Her past medical history included recurrent kidney stones. Although FHHNC is a rare disease, genetic evaluation recommended in patients with ESKD and concomitant nephrocalcinosis.