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.
MeSH terms
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Blotting, Southern
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Child
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Consanguinity
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Genes, Recessive
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Glomerulosclerosis, Focal Segmental / etiology*
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Glomerulosclerosis, Focal Segmental / surgery
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Hearing Loss, Sensorineural / etiology
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Humans
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Hypoparathyroidism / etiology
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Kidney Failure, Chronic / etiology
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Kidney Failure, Chronic / therapy
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Kidney Transplantation / methods
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Male
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Mitochondrial Myopathies / complications*
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Nervous System Diseases / etiology*
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Peritoneal Dialysis / methods
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Polymerase Chain Reaction