Renal tubular acidosis and nerve deafness.
نویسندگان
چکیده
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 entity. Examination for nerve deafness is indicated in any child with renal tubular acidosis.
منابع مشابه
Steinstrasse 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
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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.
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...
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متن کاملEnzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis.
An inactive mutant form of red cell carbonic anhydrase B is described in three members of a large kindred who manifest infantile renal tubular acidosis and nerve deafness. A combination of enzymatic and immunologic investigations permitted its detection, despite the fact that both antigenic and electrophoretic properties of the mutant were identical to those of the normal form.
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عنوان ژورنال:
- Archives of disease in childhood
دوره 55 3 شماره
صفحات -
تاریخ انتشار 1980