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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.

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Background: Familial renal glucosuria (FRG) is a rare renal tubular disorder which has recently been shown to result from mutations in SLC5A2 gene, encoding the kidney-specific low-affinity/high-capacity Na+/glucose cotransporter protein, SGLT2. The vast majority of FRG cases were shown with the confirmation of SLC5A2 mutations with larger numbers of samples from various groups. Here we present a Turkish family of mild glucosuria, with nonsense p.C522X mutation in SLC5A2 gene.Methods: DNA Sequencing analysis was performed for all the affected probands and the unaffected individuals.Results: Except for the father, the children and the mother were found out to have p.C522X mutation in SLC5A2 gene together with the divergent clinical implications.Conclusions: Rather it was found to be a sample of recessive or dominant type of renal glucosuria, the case indicated here was suggested as a model for autosomal co-dominant trait with complete penetrance and variable expressivity.

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