Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p178 | (1) | ICCBH2013

Hypomagnesaemia with hypercalciuria secondary to mutations in the Claudin gene: a single-centre experience

Sukthankar Shaila , Shenoy Mohan , Mughal Zulf

Introduction: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease caused by mutations in Claudin 16 and 19 genes, often complicated by progressive renal failure. We describe the clinical and genetic features and management of this condition in three patients at our centre.Case 1: A 3-year-old south Asian boy with consanguinity presented with hypocalcemic seizures. Investigations revealed h...