Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Name: |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
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Description: |
A rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.
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ORPHAcode: |
280406
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Synonyms: |
Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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