Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis
Park E, Cho M, Hyun H, Shin J, Lee J, Park Y, Choi H, Kang H, Cheong H. Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis. Kidney & Blood Pressure Research 2018, 43: 513-521. PMID: 29627839, DOI: 10.1159/000488698.Peer-Reviewed Original ResearchMeSH KeywordsAcidosis, Renal TubularAdolescentAnion Exchange Protein 1, ErythrocyteChildChild, PreschoolDNA Mutational AnalysisFemaleGenetic Association StudiesGrowthHearing Loss, SensorineuralHumansKidney Tubules, DistalMaleMutationNephrocalcinosisRepublic of KoreaVacuolar Proton-Translocating ATPasesConceptsDistal renal tubular acidosisRenal tubular acidosisSLC4A1 mutationsATP6V1B1 mutationsRenal functionTubular acidosisPrimary distal renal tubular acidosisLong-term follow-upPersistent growth retardationSensorineural hearing lossDecreased renal functionSevere metabolic acidosisLong-term prognosisMilder disease severityGenotype-phenotype correlationGenotype-phenotype analysisATP6V0A4 mutationsHearing lossPediatric patientsMetabolic acidosisNovel mutationsFollow-upGenetic testingGrowth retardationPathogenic mutations
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