Article
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.
Clinical and experimental nephrology - 1 Aug 2009
Al-Haggar Mohammad, Bakr Ashraf, Tajima Toshihiro, Fujieda Kenji, Hammad Ayman, Soliman Othman, Darwish Ahmad, Al-Said Afaf, Yahia Sohier, Abdel-Hady Dina
Abstract excerpt
BACKGROUND: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder that eventually progresses to renal failure, depending upon the extent of nephrocalcinosis. Its basic pathogenesis is impaired tubular resorption of magnesium and calcium in the thick ascending limb of the loop of Henle (TAL) due to a genetic defect in paracellin-1 (a tight junction...
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