Type 1 renal tubular acidosis with sensorineural deafness.
نویسندگان
چکیده
We report a case of Type 1 Renal Tubular Acidosis (RTA) in association with sensorineural deafness. Inherited Type 1 RTA is usually autosomal dominant, though there is a rarer recessive form associated with nerve deafness. Simple alkali replacement can correct the systemic metabolic defect, but does not appear to ameliorate hearing loss.
منابع مشابه
Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.
Distal renal tubular acidosis (RTA) with sensorineural deafness is a rare entity, inherited in an autosomal recessive manner. It is caused by mutations in the ATP6V1B1 gene, leading to defective function of H+-ATPase pump in the distal nephron, cochlea and endolymphatic sac. We report two siblings with distal RTA and sensorineural deafness having mutation in the first coding exon of the gene, r...
متن کاملRenal tubular acidosis with nerve deafness.
Renal tubular acidosis (RTA) is a non -uraemic clinical syndrome of disordered renal acidification.1 In the classic distal RTA (Type 1), subjects have hyperchloraemic acidosis, hyponatraemia and hypokalaemia. The urinary pH remains high (pH > 6.2), even in the presence of systemic acidosis. Although the defect is permanent, the prognosis is good when the diagnosis, with correct management, is e...
متن کاملSteinstrasse due to distal renal tubular acidosis with sensorineural deafness.
Keywords: distal renal tubular acidosis, hypercalciuria; His urinary calcium excretion ranged from 2.8 to 4.1 mg/kg per day. No glucosuria, hyperaminoaciduria nerve deafness; nephrocalcinosis; Steinstrasse or hyperphosphaturia were found. After diagnosis of DRTA with nerve deafness, the patient was maintained on oral treatment with sodium bicarbonate at a dose
متن کاملRenal tubular acidosis and nerve deafness.
Two brothers are described with renal tubular acidosis and nerve deafness: the elder also had rickets and hypokalaemia. The parents were unaffected. Studies of urinary acidification and bicarbonate excretion were consistent with a distal tubular abnormality. This report strengthens the view previously proposed in similar cases that nerve deafness and renal tubular acidosis constitute a genetic ...
متن کاملDistal Renal Tubular Acidosis Screening by Urinary Acidification Testing in Mexican Children.
BACKGROUND Primary distal renal tubular acidosis is a clinical disorder characterized by hyperchloremic metabolic acidosis, hypercalciuria, hypocitraturia, urinary acidification impairment, hypokalemia, metabolic bone disease, and nephrocalcinosis. Urinary acidification ability may be evaluated by an acidification test or maximum urinary pCO2 assessment with alkaline urine. The maximum urinary ...
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عنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 55 شماره
صفحات -
تاریخ انتشار 2007