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  • A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminaemia and oedema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described.
  • A rare genetic coenzyme Q10 deficiency with characteristics of 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. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described.
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