PT  - JOURNAL ARTICLE
AU  - Al-Elq, Abdulmohsen H.
TI  - Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters
DP  - 2008 Mar 01
TA  - Saudi Medical Journal
PG  - 447--451
VI  - 29
IP  - 3
4099  - http://smj.org.sa/content/29/3/447.short
4100  - http://smj.org.sa/content/29/3/447.full
SO  - Saudi Med J2008 Mar 01; 29
AB  - 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.