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- Title
Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.
- Authors
Park, Eujin; Cho, Myung Hyun; Hyun, Hye Sun; Shin, Jae Il; Lee, Joo Hoon; Park, Young Seo; Choi, Hyun Jin; Kang, Hee Gyung; Cheong, Hae Il
- Abstract
<bold><italic>Background/Aims:</italic></bold> Primary distal renal tubular acidosis (dRTA) in children is a rare genetic disorder, and three causative mutated genes have been identified: <italic>SLC4A1</italic>, <italic>ATP6V1B1</italic>, and <italic>ATP6V0A4</italic>. We analyzed the prevalence and phenotypic differences of genetic mutations in children with dRTA. <bold><italic>Methods:</italic></bold> A total of 17 children with dRTA were enrolled in the study. All patients underwent genetic testing for all three candidate genes. <bold><italic>Results:</italic></bold> Pathogenic mutations, including six novel mutations, were detected in 15 (88.2%) patients: dominant <italic>SLC4A1</italic> mutations in ten (58.8%) patients, recessive <italic>ATP6V0A4</italic> mutations in three (17.6%) patients, and recessive <italic>ATP6V1B1</italic> mutations in two (11.8%) patients. Compared to other patients, patients with <italic>SLC4A1</italic> 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 <italic>ATP6V1B1</italic> 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. <bold><italic>Conclusions:</italic></bold><italic>SLC4A1</italic> is the most common defective gene in Korean children with dRTA. Patients with <italic>SLC4A1</italic> 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.
- Subjects
ACIDOSIS; PEDIATRICS; KIDNEY diseases; GLOMERULAR filtration rate; CHRONIC kidney failure; PATIENTS
- Publication
Kidney & Blood Pressure Research, 2018, Vol 43, Issue 2, p513
- ISSN
1420-4096
- Publication type
Article
- DOI
10.1159/000488698