CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

@article{Konrad2008CLDN16GP,
  title={CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.},
  author={Martin A Konrad and Jianghui Hou and Stefanie Weber and Joerg Doetsch and Jameela Kari and Tom{\'a}{\vs} Seeman and Eberhard Kuwertz-Br{\"o}king and Amira Peco-Anti{\'c} and Velibor Tasic and Katalin Dittrich and Hammad O. Alshaya and Rodo O von Vigier and Sabina Gallati and Daniel A. Goodenough and Andr{\'e} Schaller},
  journal={Journal of the American Society of Nephrology : JASN},
  year={2008},
  volume={19 1},
  pages={171-81}
}
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder caused by CLDN16 mutations. CLDN16 encodes the renal tight junction protein claudin-16, which is important for the paracellular reabsorption of calcium and magnesium in the thick ascending limb of Henle’s loop. That FHHNC is frequently associated with progressive renal failure suggests additional roles for claudin-16 in the maintenance of tight junction integrity. An… CONTINUE READING

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