Article
A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
BMC research notes - 10 Dec 2013
Deeb Asma, Abood Salima Atia, Simon Job, Dastoor Hormazdiar, Pearce Simon Hs, Sayer John A
Abstract excerpt
BACKGROUND: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is a rare tubulopathy leading to renal calcification and progressive renal failure. CASE PRESENTATION: We report a consanguineous Arab family (of Qatari origin) with 7 affected siblings with variable phenotypes including hypomagnesaemia, hypercalciuria, nephrocalcinosis and renal stones. Presenting features included haematuria and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.