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• W1963496164 abstract "Primary distal renal tubular acidosis with sensorineural hearing loss is a rare autosomal recessive disease, usually caused by mutations in the ATP6V1B1 gene. The aim of this study was to characterise the phenotype of this disease, with emphasis on the auditory findings, in a cohort of Israeli children.Prospective study of five children, from three unrelated families, with distal renal tubular acidosis and bilateral sensorineural hearing loss, with mutations in the ATP6V1B1 gene.The following were collected from patients' medical records: biochemical and renal data, age at distal renal tubular acidosis diagnosis, and age at hearing loss. Hearing loss progression as well as current hearing status were assessed, and high resolution computed tomography of the temporal bone was performed. All patients underwent genetic testing.Four patients were diagnosed with distal renal tubular acidosis before the age of six months and one at 24 months. All had the classical findings of low blood pH and inappropriately high urine pH. Hearing loss was diagnosed between the ages of three months and two years. The hearing loss was bilateral, asymmetrical and progressive, occasionally with a conductive component. Two children underwent cochlear implantation, at ages 10 and 15 years. High resolution computed tomography, performed in four patients between the ages of 2.5 and 15 years, showed bilaterally enlarged vestibular aqueducts. This was the only radiological abnormality in the inner ear in all cases. A different mutation in the ATP6V1B1 gene was found in each family.Several types of mutations in the ATP6V1B1 gene may cause distal renal tubular acidosis and sensorineural hearing loss. Patients display a typical progressive type of hearing loss and have enlarged vestibular aqueducts, with no other abnormalities being observed on imaging." @default.
• W1963496164 created "2016-06-24" @default.
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• W1963496164 date "2007-08-01" @default.
• W1963496164 modified "2023-10-13" @default.
• W1963496164 title "Audiometric and imaging characteristics of distal renal tubular acidosis and deafness" @default.
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• W1963496164 doi "https://doi.org/10.1017/s0022215107009747" @default.
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