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

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 t...

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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Karger Publishers 2018-03-01
Serie:Kidney & Blood Pressure Research
Soggetti:
Distal renal tubular acidosis
Mutations
Sensorineural hearing loss
Nephrocalcinosis
Chronic kidney disease
Growth retardation
Accesso online:https://www.karger.com/Article/FullText/488698
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