Kose, EnginKose, Seda SirinAlparslan, CanerDemir, Belde KasapBerdeli, AfigOzsan, Fatma MutlubasYavascan, OnderAksu, Nejat2019-10-272019-10-2720140886-022X1525-6049https://doi.org/10.3109/0886022X.2014.890055https://hdl.handle.net/11454/50058A 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.en10.3109/0886022X.2014.890055info:eu-repo/semantics/closedAccessATP6V0A4 genechildhooddistal renal tubular acidosisearly-onset sensorineural hearing lossval2ala mutationArticle365808810WOS:00033674350002624564331Q2Q4