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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations

Cited 23 time in Web of Science Cited 29 time in Scopus
Authors
Kang, Ju Hyung; Choi, Hyun Jin; Cho, Hee Yeon; Lee, Joo Hoon; Ha, Il Soo; Cheong, Hae Il; Choi, Yong
Issue Date
2005-07-28
Publisher
Springer Verlag
Citation
Pediatr Nephrol. 2005 Oct;20(10):1490-3. Epub 2005 Jul 27.
Keywords
Base SequenceCalcium/*urineCalcium Metabolism Disorders/*geneticsChildCytosineFemaleGene DeletionGuanineHeterozygoteHumansMagnesium Deficiency/*blood/*geneticsMaleMembrane Proteins/*geneticsMolecular Sequence Data*MutationNephrocalcinosis/*genetics
Abstract
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder, is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the loop of Henle and an eventual progression to end-stage renal disease. Recent studies have reported that this disease is caused by mutations in the CLDN16 gene, which encodes the tight junction protein, paracellin-1. Paracellin-1 belongs to the claudin family and regulates the paracellular transport of magnesium and calcium. Here, we report on two Korean siblings with typical clinical features of FHHNC in association with compound heterozygous mutations, G233C and 800delG, in CLDN16. Their parents were asymptomatic heterozygous carriers of the single mutations. This is the first report of FHHNC in Korea, and the mutations reported are novel.
ISSN
0931-041X (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16047219

http://hdl.handle.net/10371/29517
DOI
https://doi.org/10.1007/s00467-005-1969-7
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College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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