Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness
نویسندگان
چکیده
منابع مشابه
Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia.
OBJECTIVE A family is described which has a unique combination of autosomal dominant hypoparathyroidism and sensorineural deafness without renal dysplasia. CASE REPORT The proband was a male infant aged 1 month with episodes of seizures for 20 days. He was born at 35 weeks' gestation without asphyxia, weighing 2040 g. His initial calcium, phosphorus and percentage of tubular reabsorption of p...
متن کاملHypoparathyroidism, sensorineural deafness, and renal disease
Key words Disease name and synonyms Definition/diagnostic criteria Epidemiology Clinical description Etiology Diagnostic methods Differential diagnosis Genetic counseling Antenatal diagnosis Management including treatment Prognosis Unresolved questions References Abstract The syndrome of Hypoparathyroidism, sensorineural deafness and renal disease (HDR syndrome) is an inherited condition. Patie...
متن کاملThe Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.
The syndrome of familial hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR syndrome) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p. Although first described years ago, but the disease is considered to be very rare. Patients usually present with hypocalcemia, tetany, or afebrile convulsions at any age. Hearing los...
متن کاملType 1 renal tubular acidosis with sensorineural deafness.
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 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
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2001
ISSN: 1460-2385,0931-0509
DOI: 10.1093/ndt/16.6.1291