Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report
Makaleler > Tam Makale · 2014
Yazarlar: Engin KÖSE, Seda Sirin Kose, Caner ALPARSLAN, Belde Kasap Demir, Afig BERDELİ, Fatma Mutlubas Ozsan, Onder YAVASCAN, Nejat AKSU
Renal Failure, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2014, cilt 36, ss 808-810
DOI: 10.3109/0886022x.2014.890055
Özet
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.