RT Journal Article
SR Electronic
T1 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 447
OP 451
VO 29
IS 3
A1 Al-Elq, Abdulmohsen H.
YR 2008
UL http://smj.org.sa/content/29/3/447.abstract
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.