Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings

• DOI: 10.1007/s00467-008-0758-5
• Publication Date: 2008-02-05T09:21:53Z
• Authors: Harun Peru; Fatih Akin; Sefika Elmas; Ahmet Midhat Elmaci; Martin Konrad
• Keywords: Nephrocalcinosis; Claudin; Hypocalciuria; Nephrology; Loop of Henle

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the loop of Henle. This disease is caused by mutations in the claudin-16 gene (CLDN16), which encodes the tight junction protein, claudin-16. Claudin-16 belongs to the claudin family and regulates the paracellular transport of magnesium and calcium. Here, we report on three Turkish siblings with typical clinical features of FHHNC in association with the homozygous mutation Leu151Phe.