Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease.
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 mitochondrial myopathy and neuropathy was diagnosed.
Hameed
R
R
Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.
Raafat
F
F
Ramani
P
P
Gray
G
G
Roper
H P
HP
Milford
D V
DV
D015139:Blotting, Southern; D002648:Child; D003241:Consanguinity; D005808:Genes, Recessive; D005923:Glomerulosclerosis, Focal Segmental / Q000209:etiology* / Q000601:surgery; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006801:Humans; D007011:Hypoparathyroidism / Q000209:etiology; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000628:therapy; D016030:Kidney Transplantation / Q000379:methods; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications*; D009422:Nervous System Diseases / Q000209:etiology*; D010530:Peritoneal Dialysis / Q000379:methods; D016133:Polymerase Chain Reaction