Cited 25 times in
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis
DC Field | Value | Language |
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dc.contributor.author | 신재일 | - |
dc.date.accessioned | 2018-09-28T08:57:27Z | - |
dc.date.available | 2018-09-28T08:57:27Z | - |
dc.date.issued | 2018 | - |
dc.identifier.issn | 1420-4096 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/163270 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Karger | - |
dc.relation.isPartOf | KIDNEY & BLOOD PRESSURE RESEARCH | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Pediatrics | - |
dc.contributor.googleauthor | Eujin Park | - |
dc.contributor.googleauthor | Myung Hyun Cho | - |
dc.contributor.googleauthor | Hye Sun Hyun | - |
dc.contributor.googleauthor | Jae Il Shin | - |
dc.contributor.googleauthor | Joo Hoon Lee | - |
dc.contributor.googleauthor | Young Seo Park | - |
dc.contributor.googleauthor | Hyun Jin Choi | - |
dc.contributor.googleauthor | Hee Gyung Kang | - |
dc.contributor.googleauthor | Hae Il Cheong | - |
dc.identifier.doi | 10.1159/000488698 | - |
dc.contributor.localId | A02142 | - |
dc.relation.journalcode | J01940 | - |
dc.identifier.eissn | 1423-0143 | - |
dc.identifier.pmid | 29627839 | - |
dc.subject.keyword | Chronic kidney disease | - |
dc.subject.keyword | Distal renal tubular acidosis | - |
dc.subject.keyword | Growth retardation | - |
dc.subject.keyword | Mutations | - |
dc.subject.keyword | Nephrocalcinosis | - |
dc.subject.keyword | Sensorineural hearing loss | - |
dc.contributor.alternativeName | Shin, Jae Il | - |
dc.contributor.affiliatedAuthor | Shin, Jae Il | - |
dc.citation.volume | 43 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 513 | - |
dc.citation.endPage | 521 | - |
dc.identifier.bibliographicCitation | KIDNEY & BLOOD PRESSURE RESEARCH, Vol.43(2) : 513-521, 2018 | - |
dc.identifier.rimsid | 58535 | - |
dc.type.rims | ART | - |
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