title: Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.
abstract: A 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.
authors.affiliation: Department of Pediatrics, Izmir Tepecik Training and Research Hospital , Izmir , Turkey .
authors.forename: Engin
authors.initials: E
authors.lastname: Kose
authors.forename: Seda
authors.initials: S
authors.lastname: Sirin Kose
authors.forename: Caner
authors.initials: C
authors.lastname: Alparslan
authors.forename: Belde
authors.initials: B
authors.lastname: Kasap Demir
authors.forename: Afig
authors.initials: A
authors.lastname: Berdeli
authors.forename: Fatma
authors.initials: F
authors.lastname: Mutlubas Ozsan
authors.forename: Onder
authors.initials: O
authors.lastname: Yavascan
authors.forename: Nejat
authors.initials: N
authors.lastname: Aksu
mesh_terms: D000141:Acidosis, Renal Tubular / Q000150:complications / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*
chemical_list: C490181:ATP6V0A4 protein, human; D025262:Vacuolar Proton-Translocating ATPases
keywords: ATP6V0A4 gene; childhood; distal renal tubular acidosis; early-onset sensorineural hearing loss; val2ala mutation