Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease
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چکیده
منابع مشابه
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 mi...
متن کاملFocal segmental glomerulosclerosis associated with mitochondrial disease
Primary mitochondrial diseases (MD) are complex, heterogeneous inherited diseases caused by mutations in either the mitochondrial or nuclear DNA. Glomerular diseases in MD have been reported with tRNA mutation m.3243A>G causing a syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). We describe here a case of focal segmental glomerulosclerosis (FSGS) ass...
متن کاملHypoparathyroidism, sensorineural deafness, and renal disease
Key words Disease name and synonyms Definition/diagnostic criteria Epidemiology Clinical description Etiology Diagnostic methods Differential diagnosis Genetic counseling Antenatal diagnosis Management including treatment Prognosis Unresolved questions References Abstract The syndrome of Hypoparathyroidism, sensorineural deafness and renal disease (HDR syndrome) is an inherited condition. Patie...
متن کاملMinimal change disease and focal segmental glomerulosclerosis.
Minimal change disease (MCD) accounts for greater than 90% of cases of nephrotic syndrome in children. In adults, MCD accounts for 10–15% of nephrotic syndrome. FSGS is increasing in incidence in adults and children, and in the USA, in adults, is now the most common cause of nephrotic syndrome w1,2x. MCD shows normal glomeruli by light microscopy. Associated acute interstitial nephritis suggest...
متن کاملFocal Segmental Glomerulosclerosis.
Focal segmental glomerulosclerosis (FSGS) is a leading cause of kidney disease worldwide. The presumed etiology of primary FSGS is a plasma factor with responsiveness to immunosuppressive therapy and a risk of recurrence after kidney transplant-important disease characteristics. In contrast, adaptive FSGS is associated with excessive nephron workload due to increased body size, reduced nephron ...
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ژورنال
عنوان ژورنال: Postgraduate Medical Journal
سال: 2001
ISSN: 0032-5473
DOI: 10.1136/pmj.77.910.523