Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report

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dc.contributor.authorKose, Engin
dc.contributor.authorKose, Seda Sirin
dc.contributor.authorAlparslan, Caner
dc.contributor.authorDemir, Belde Kasap
dc.contributor.authorBerdeli, Afig
dc.contributor.authorOzsan, Fatma Mutlubas
dc.contributor.authorYavascan, Onder
dc.contributor.authorAksu, Nejat
dc.date.accessioned2019-10-27T22:14:43Z
dc.date.available2019-10-27T22:14:43Z
dc.date.issued2014
dc.departmentEge Üniversitesien_US
dc.description.abstractA young female patient born to consanguineous parents was admitted to our clinic at the age of 3 years with a 5-month history of weight loss and recurrent urinary tract infections. Based on clinical findings (delayed growth and O-bein deformity) and laboratory tests (hypokalemia, hyperchloremia, partially compensated metabolic acidosis, alkaline urine and nephrocalsinosis), a diagnosis of distal renal tubular acidosis (dRTA) was made. Then, the audiogram revealed a bilateral sensorineural hearing loss (SNHL). On follow-up, bilateral SNHL progressively worsened requiring the need for hearing aid. The ATP6V0A4 gene mutation analysis showed homozygote Val2Ala mutation. To the best of our knowledge, this is the first report describing a Turkish girl with dRTA who suffered from early-onset SNHL caused by Val2Ala mutation in the ATP6V0A4 gene.en_US
dc.identifier.doi10.3109/0886022X.2014.890055en_US
dc.identifier.endpage810en_US
dc.identifier.issn0886-022X
dc.identifier.issn1525-6049
dc.identifier.issue5en_US
dc.identifier.pmid24564331en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage808en_US
dc.identifier.urihttps://doi.org/10.3109/0886022X.2014.890055
dc.identifier.urihttps://hdl.handle.net/11454/50058
dc.identifier.volume36en_US
dc.identifier.wosWOS:000336743500026en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherInforma Healthcareen_US
dc.relation.ispartofRenal Failureen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectATP6V0A4 geneen_US
dc.subjectchildhooden_US
dc.subjectdistal renal tubular acidosisen_US
dc.subjectearly-onset sensorineural hearing lossen_US
dc.subjectval2ala mutationen_US
dc.titleVal2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case reporten_US
dc.typeArticleen_US

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