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

WOS: 000336743500026PubMed ID: 24564331A 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

Toilet training age and influencing factors: a multicenter study

WOS: 000367570300010PubMed ID: 26690599To determine toilet training age and the factors influencing this in our country, 1500 children who had completed toilet training were evaluated in a multicenter study. The mean age of toilet training was 22.32 +/- 6.57 months. The duration it took to complete toilet training was 6.60 +/- 2.20 months on the average. In univariant analysis, toilet training age increased as the parental education level, specifically that of the mother, increased. The training age of children whose mothers had over 12 years of education differed significantly from that of children of mothers with less education. There was no significant difference in toilet training age with regard to the education level of the father, or the employment status of the mother. We also found significant differences with respect to family income level, toilet type and training method. In multivariant analysis, family income >5000 TL and use of a potty chair were determined to be factors affecting toilet training age. In conclusion, toilet training age in Turkey, a developing country, was found to be lower than that in developed countries