S-Space College of Medicine/School of Medicine (의과대학/대학원) Pediatrics (소아과학전공) Journal Papers (저널논문_소아과학전공)
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations
- Kang, Ju Hyung; Choi, Hyun Jin; Cho, Hee Yeon; Lee, Joo Hoon; Ha, Il Soo; Cheong, Hae Il; Choi, Yong
- Issue Date
- Springer Verlag
- Pediatr Nephrol. 2005 Oct;20(10):1490-3. Epub 2005 Jul 27.
- Base Sequence; Calcium/*urine; Calcium Metabolism Disorders/*genetics; Child; Cytosine; Female; Gene Deletion; Guanine; Heterozygote; Humans; Magnesium Deficiency/*blood/*genetics; Male; Membrane Proteins/*genetics; Molecular Sequence Data; *Mutation; Nephrocalcinosis/*genetics
- 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.
- 0931-041X (Print)
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