Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters

Authors

• Abdulmohsen H. Al-Elq, Department of Internal Medicine, King Fahd Hospital of the University, PO Box 40145, Al-Khobar 31952, Kingdom of Saudi Arabia. Tel. +966 (3) 504845362. Fax. +966 (3) 8966741. E-mail: aalelq{at}yahoo.com

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.

Article Type

Case Report

First Page

447

Last Page

451

Recommended Citation

Al-Elq, Abdulmohsen H. (2008) "Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters," Saudi Medical Journal: Vol. 29: Iss. 3, Article 24.
DOI: https://doi.org/10.15537/1658-3175.4271