Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Synonyms: Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Familial steroid-resistant nephrotic syndrome with sensorineural deafness?
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