Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
S Weber, L Schneider, M Peters… - Journal of the …, 2001 - journals.lww.com
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an
autosomal recessive tubular disorder that is frequently associated with progressive renal
failure. The primary defect is related to impaired tubular reabsorption of magnesium and
calcium in the thick ascending limb of Henle's loop. Mutations in PCLN-1, which encodes the
renal tight junction protein paracellin-1 (claudin-16), were identified as the underlying
genetic defects. Comprehensive clinical data and the results of PCLN-1 mutation analysis of …
autosomal recessive tubular disorder that is frequently associated with progressive renal
failure. The primary defect is related to impaired tubular reabsorption of magnesium and
calcium in the thick ascending limb of Henle's loop. Mutations in PCLN-1, which encodes the
renal tight junction protein paracellin-1 (claudin-16), were identified as the underlying
genetic defects. Comprehensive clinical data and the results of PCLN-1 mutation analysis of …