2000
DOI: 10.1111/j.1523-1755.2000.00356.x
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Focal segmental glomerulosclerosis associated with mitochondrial cytopathy

Abstract: FSGS is a renal manifestation of MCs. The renal lesion can precede other manifestations of the genetic disease by many years. The striking arteriolar lesions in these cases may have resulted in glomerular hypertension and hyperperfusion, leading to secondary epithelial cell abnormalities and, ultimately, FSGS. However, primary epithelial cell dysfunction caused by mitochondrial defects could not be ruled out on morphological grounds. MCs should be considered in cases of so-called primary FSGS, particularly if … Show more

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Cited by 90 publications
(46 citation statements)
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“…In four adult patients with FSGS, kidney disease was attributed to an MID, as renal biopsy revealed the presence of the m.3243A>G mutation in the tRNA(Leu) gene (61). Notably, no other organs were affected in these four patients; thus, kidney disease was the initial manifestation and dominant feature of the MID and, therefore, the phenotype was not consistent with MELAS syndrome at the time of diagnosis (63). In a patient with sensorineural blindness, attributed to a non-genetically proven MID, Bartter-like syndrome was the second phenotypic feature (64).…”
Section: Mdsmentioning
confidence: 95%
“…In four adult patients with FSGS, kidney disease was attributed to an MID, as renal biopsy revealed the presence of the m.3243A>G mutation in the tRNA(Leu) gene (61). Notably, no other organs were affected in these four patients; thus, kidney disease was the initial manifestation and dominant feature of the MID and, therefore, the phenotype was not consistent with MELAS syndrome at the time of diagnosis (63). In a patient with sensorineural blindness, attributed to a non-genetically proven MID, Bartter-like syndrome was the second phenotypic feature (64).…”
Section: Mdsmentioning
confidence: 95%
“…This is particularly relevant in chronic diseases such as diabetes mellitus [9][10][11], renal insufficiency [30][31][32][33], liver disease [34][35][36], and neurodegenerative diseases [37][38][39]. Persistent cell damage by excessive exposure to free radicals resulting from the byproducts of mitochondrial biogenesis can contribute to the development and progressive deterioration of these diseases.…”
Section: Abbreviationsmentioning
confidence: 99%
“…While kidney disease due to mitochondrial point mutations has occasionally been reported in the absence of extrarenal features, 13,23 it more commonly occurs in the setting of MELAS syndrome 14,[24][25][26][27][28] or deafness, which usually occurs with diabetes. 11,12,26,[29][30][31][32][33][34][35] Point mutations that occur in a protein-coding region of mtDNA in association with a kidney phenotype are very rare. 36 A singlebase deletion in the complex I subunit NADH dehydrogenase 5, has been reported to occur in a single individual with glomerulocystic kidney disease and renal failure.…”
mentioning
confidence: 99%