Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of two cases

ABSTRACT

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive tubular disorder caused by CLDN-16 mutations. CLND-1 6 gene encodes the renal tight junction protein claudin 16 [formerly paracelline-1]. This is an unusual cause of chronic renal failure. Case 1 a 9-month-old girl was hospitalized for urinary tract infection. The systematic renal ultrasound scanning showed a bilateral medullary nephrocalcinosis. The diagnosis hypomagnesemia with hypercalciuria and nephrocalcinosis has been established after a metabolic investigation. The follow up was marked by the deterioration of renal function. Case n°2 A boy with nephrocalcinosis was referred for investigation at the age of 15 months. in his history, he had seizures at the age of 5 days. The family inquiry revealed the same disease in uncle and maternal grandfather. The age of revelation of this disease is relatively early in our patients compared with those reported in the literature. The nephrocalcinosis and deterioration of renal function seems inevitable despite substitution treatment