Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease
R Hameeda, F Raafatb, P Ramani, G Grayc, H P Roperd, D V Milforda
a Birmingham
Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK:
Department of Nephrology, b Department of Histopathology, c Department of Biochemistry, d Department
of Paediatrics, Birmingham Heartlands Hospital, Birmingham
Correspondence to: Dr Milford david.milford{at}bhamchildrens.wmids.nhs.uk
Submitted 25 January
1999;
Accepted 17 October 2000
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.
Keywords: mitochondrial myopathy; neuropathy; focal and segmental glomerulosclerosis; renal transplantation
© 2001 by The Fellowship of Postgraduate Medicine
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