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Genetic basis of Bartter syndrome in Korea

 Beom Hee Lee  ;  Hee Yeon Cho  ;  HyunKyung Lee  ;  Kyoung Hee Han  ;  Hee Gyung Kang  ;  Il Soo Ha  ;  Joo Hoon Lee  ;  Young Seo Park  ;  Jae Il Shin  ;  Dae-Yeol Lee  ;  Su-Yung Kim  ;  Yong Choi  ;  Hae Il Cheong 
 Nephrology Dialysis Transplantation, Vol.27(4) : 1516-1521, 2012 
Journal Title
 Nephrology Dialysis Transplantation 
Issue Date
BACKGROUND: Bartter syndrome (BS) is clinically classified into antenatal or neonatal BS (aBS) and classic BS (cBS) as well as five subtypes based on the underlying mutant gene; SLC12A1 (BS I), KCNJ1 (BS II), CLCNKB (BS III), BSND (BS IV) and CASR (BS V). METHODS: Clinico-genetic features of a nationwide cohort of 26 Korean children with BS were investigated. RESULTS: The clinical diagnosis was aBS in 8 (30.8%), cBS in 15 (57.7%) and mixed Bartter-Gitelman phenotype in 3 cases (11.5%). Five of eight patients with aBS and all 18 patients with either cBS or mixed Bartter-Gitelman phenotype had CLCNKB mutations. Among the 23 patients (46 alleles) with CLCNKB mutations, p.W610X and large deletions were detected in 25 (54.3%) and 10 (21.7%) alleles, respectively. There was no genotype-phenotype correlation in patients with CLCNKB mutations. CONCLUSIONS: Twenty-three (88.5%) of the 26 BS patients involved in this study had CLCNKB mutations. The p.W610X mutation and large deletion were two common types of mutations in CLCNKB. The clinical manifestations of BS III were heterogeneous without a genotype-phenotype correlation, typically manifesting cBS phenotype but also aBS or mixed Bartter-Gitelman phenotypes. The molecular diagnostic steps for patients with BS in our population should be designed taking these peculiar genotype distributions into consideration, and a new more clinically relevant classification including BS and Gitelman syndrome is required.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Shin, Jae Il(신재일) ORCID logo https://orcid.org/0000-0003-2326-1820
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