Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
Vol. 23, No. 1, 2013, pp. 89-94
Bioline Code: pe13015
Full paper language: English
Document type: Case Report
Document available free of charge
Iranian Journal of Pediatrics, Vol. 23, No. 1, 2013, pp. 89-94
© Copyright 2013 - Iran Journal of Pediatrics
A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene|
Wang, Xiumin; Shen, Zheng; Xu, Meichun; Fu, Junfen & Liang, Li
Background: Bartter’s syndrome is a heterogeneous disorder characterized by deficient renal reabsorption of
sodium and chloride, and hypokalemic metabolic alkalosis with hyper-reninemia and hyperaldosteronemia.
Bartter syndrome type III (BS type III), due to mutations in the CLCNKB gene, is highly variable. The aim of
our study was to describe the clinical presentation in a Chinese girl with BS type III and to explore mutations
or SNPs of CLCNKB gene in her family.
Case Presentation: The clinic data of the patient was collected. Mutations or SNPs were investigated by
sequencing of the exon of CLCNKB gene. The clinic analysis confirmed the diagnosis of BS type III. The
coexistence of 13 reported SNPs and 11 novel SNPs of CLCNKB gene were found in the patient and her parent.
a novel heterozygous C to G transition at nucleotide 2471 in exon 20 of CLCNKB gene harbored uniquely by
the patient were revealed.
Conclusion: A novel heterozygous C to G mutation at nucleotide 2471 of CLCNKB gene and some new SNPs
were identified in a Chinese girl with BS type III having persistent hypokalemia. The novel mutation and SNPs
make the genetic background of the patient more complicated.
Bartter Syndrome; Hypokalemia; Chloride Channel; Metabolic Alkalosis; Mutation
Alternative site location: http://diglib.tums.ac.ir/pub/