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Case Reports
. 2001 Aug;77(910):523-6.
doi: 10.1136/pmj.77.910.523.

Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease

R Hameed  1 , F Raafat, P Ramani, G Gray, H P Roper, D V Milford
Affiliations
Case Reports

Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease

R Hameed et al. Postgrad Med J. 2001 Aug.

Abstract

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.

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References

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