Familial idiopathic hypoparathyroidism and progressive 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 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 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...
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A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure and was successfully managed by dialysis and cadaveric renal transplantation. He later developed progressive neurological deterioration and mi...
متن کاملFamilial spastic paraplegia, bilateral sensorineural deafness, and intellectual retardation associated with a progressive nephropathy.
We present a family in which at least four persons have evidence of an inherited disorder comprising a variable spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and a progressive nephropathy. Focal segmental proliferative lesions with sclerosis suggestive of mesangial IgA nephropathy (Berger's disease) were found on renal renal biopsy in two affected persons. The ...
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ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 1986
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.148.135