title: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters.
abstract: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium wasting, eventually, progressing to renal failure. It has been recently attributed to a mutation in the Claudin 16 (CLDN 16) gene of the Paracellin-1 (PCLN-1) tight junction protein. Herein, we report 2 sisters with FHHNC. Both sisters presented at an early stage with hypomagnesemia and hypocalcemia. The first patient was initially mislabeled and treated as a case of hypoparathyroidism, while the second patient was diagnosed retrospectively after the diagnosis of her sister. The 2 patients developed end stage renal disease.
authors.affiliation: Department of Internal Medicine, King Fahd Hospital of the University, Al-Khobar, Kingdom of Saudi Arabia. aalelq@yahoo.com
authors.forename: Abdulmohsen H
authors.initials: AH
authors.lastname: Al-Elq
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D053565:Hypercalciuria / Q000150:complications* / Q000235:genetics*; D008274:Magnesium / Q000097:blood*; D009397:Nephrocalcinosis / Q000150:complications* / Q000235:genetics*
chemical_list: D008274:Magnesium