A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets

Genet Couns. 2011;22(2):187-92.

Abstract

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is caused by a mutation in the gene CLDN16, which encodes paracellin 1 (claudin-16), atight junction protein mediating paracellular transport which is expressed in the thick ascending loop of Henle and in the distal convoluted tubule, where reabsorption of magnesium occurs. We present a 4 years old Turkish female child with a chief complaint of hypocalcemic tetany. A diagnosis of FHHNC was confirmed by genetic testing for a mutation in claudin 16 gene. Claudin 16 gene revealed homozygosity for the p.K183E(AAA>GAA) C. 547A>G indicating the diagnosis of hypomagnesemia with hypercalciuria and nephrocalcinosis. To our knowledge, this is the first case of FHHNC reported in Turkish population diagnosed at molecular level.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Claudins
  • Diagnosis, Differential
  • Female
  • Homozygote
  • Humans
  • Hypercalciuria / diagnosis
  • Hypercalciuria / genetics*
  • Membrane Proteins / genetics*
  • Mutation
  • Nephrocalcinosis / diagnosis
  • Nephrocalcinosis / genetics*
  • Phenotype
  • Renal Tubular Transport, Inborn Errors / diagnosis
  • Renal Tubular Transport, Inborn Errors / genetics*
  • Rickets / diagnosis
  • Turkey

Substances

  • Claudins
  • Membrane Proteins
  • claudin 16

Supplementary concepts

  • Hypomagnesemia primary