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Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis

Authors
 Eujin Park  ;  Myung Hyun Cho  ;  Hye Sun Hyun  ;  Jae Il Shin  ;  Joo Hoon Lee  ;  Young Seo Park  ;  Hyun Jin Choi  ;  Hee Gyung Kang  ;  Hae Il Cheong 
Citation
 KIDNEY & BLOOD PRESSURE RESEARCH, Vol.43(2) : 513-521, 2018 
Journal Title
 KIDNEY & BLOOD PRESSURE RESEARCH 
ISSN
 1420-4096 
Issue Date
2018
Keywords
Chronic kidney disease ; Distal renal tubular acidosis ; Growth retardation ; Mutations ; Nephrocalcinosis ; Sensorineural hearing loss
Abstract
BACKGROUND/AIMS: Primary distal renal tubular acidosis (dRTA) in children is a rare genetic disorder, and three causative mutated genes have been identified: SLC4A1, ATP6V1B1, and ATP6V0A4. We analyzed the prevalence and phenotypic differences of genetic mutations in children with dRTA. METHODS: A total of 17 children with dRTA were enrolled in the study. All patients underwent genetic testing for all three candidate genes. RESULTS: Pathogenic mutations, including six novel mutations, were detected in 15 (88.2%) patients: dominant SLC4A1 mutations in ten (58.8%) patients, recessive ATP6V0A4 mutations in three (17.6%) patients, and recessive ATP6V1B1 mutations in two (11.8%) patients. Compared to other patients, patients with SLC4A1 mutations showed an older age of onset (3.7 ± 2.6 years) and less severe metabolic acidosis at initial presentation. All patients developed nephrocalcinosis, and sensorineural hearing loss was observed in two patients with ATP6V1B1 mutations. Three (17.6%) patients had decreased renal function (chronic kidney disease stage 2), and five (29.4%) patients had persistent growth retardation at the last follow-up. Long-term prognosis showed no genotype-phenotype correlation. CONCLUSIONS: SLC4A1 is the most common defective gene in Korean children with dRTA. Patients with SLC4A1 mutations show later onset and milder disease severity. Long-term follow-up of hearing ability, renal function, and growth is necessary for patients with dRTA.
Files in This Item:
T201802651.pdf Download
DOI
10.1159/000488698
Appears in Collections:
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
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/163270
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