Abstract | INTRODUCTION: MATERIALS AND METHODS: In this study, 51 children diagnosed with renal tubular acidosis were evaluated. Diagnosis of DRTA was based on clinical manifestations and detection of normal anion gap metabolic acidosis, urine pH higher than 5.5, and positive urinary anion gap. Audiometry was performed in children with DRTA and sequencing of the ATP6V1B1 gene was done for those with sensorineural hearing loss. RESULTS: Twenty-seven patients (52.9%) had DRTA, of whom 51.9% were younger than 1 year old, 55.6% were boys, and 44.4% were girls. Eleven patients (40.7%) had bilateral sensorineural hearing loss, consisting of 5 of 15 boys (33.3%) and 6 of 12 girls (50.0%). There was no correlation between hearing loss and gender. Three patients with hearing loss had mutation in the ATP6V1B1 gene (11.1% of patients with DRTA and 27.3% of patients with DRTA and hearing loss). CONCLUSIONS:
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Authors | Mostafa Sharifian, Nasrin Esfandiar, Samira Mazaheri, Ariana Kariminejad, Masoumeh Mohkam, Reza Dalirani, Rana Esmaili, Mitra Ahmadi, Mehrnoush Hassas-Yeganeh |
Journal | Iranian journal of kidney diseases
(Iran J Kidney Dis)
Vol. 4
Issue 3
Pg. 202-6
(Jul 2010)
ISSN: 1735-8582 [Print] Iran |
PMID | 20622307
(Publication Type: Journal Article)
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Chemical References |
- ATP6V1B1 protein, human
- Vacuolar Proton-Translocating ATPases
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Topics |
- Acidosis, Renal Tubular
(complications, diagnosis, genetics)
- Adolescent
- Audiometry
- Child
- Child, Preschool
- DNA Mutational Analysis
- Diagnosis, Differential
- Female
- Hearing Loss, Sensorineural
(diagnosis, etiology, genetics)
- Humans
- Hydrogen-Ion Concentration
- Infant
- Male
- Vacuolar Proton-Translocating ATPases
(genetics)
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