CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
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 investigation of 32 patients with FHHNC and …
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 investigation of 32 patients with FHHNC and …