Genotype-phenotype analysis in pediatric patients with distal renal tubular acidosis

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

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20 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)513-521
Number of pages9
JournalKidney and Blood Pressure Research
Issue number2
Publication statusPublished - 2018

Bibliographical note

Funding Information:
This study was supported by the Korean Health Technology R&D Project, ?inistry of Health & Welfare (H? 猃琀C 爃爃猃瘂ఁ?

Publisher Copyright:
© 2018 The Author(s). Published by S. Karger AG, Basel.

All Science Journal Classification (ASJC) codes

  • Nephrology
  • Cardiology and Cardiovascular Medicine


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