A Case of Mitochondrial Cytopathy with a Typical Point Mutation for MELAS, Presenting with Severe Focal-Segmental Glomerulosclerosis as MainClinical Manifesta tion

1998 ◽  
Vol 18 (6) ◽  
pp. 551-556 ◽  
Author(s):  
Fumio Kurogouchi ◽  
Tomomasa Oguchi ◽  
Eiichirou Mawatari ◽  
Shuichi Yamaura ◽  
Kazuhiko Hora ◽  
...  
Keyword(s):  
Point Mutation ◽  
Focal Segmental Glomerulosclerosis ◽  
Mitochondrial Cytopathy ◽  
Segmental Glomerulosclerosis ◽  
Typical Point

Focal Segmental Glomerulosclerosis Associated with Mitochondrial Cytopathy: Report of Two Cases with Special Emphasis on Podocytes

2005 ◽  
Vol 8 (6) ◽  
pp. 710-717 ◽  
Author(s):  
Şafak Güçer ◽  
Beril Talim ◽  
Esin Aşan ◽  
Petek Korkusuz ◽  
Seza Özen ◽  
...  
Keyword(s):  
Focal Segmental Glomerulosclerosis ◽  
Muscle Biopsy ◽  
Dna Analysis ◽  
Cell Damage ◽  
Serum Lactate ◽  
High Serum ◽  
Glomerular Epithelial Cell ◽  
Mitochondrial Cytopathy ◽  
Segmental Glomerulosclerosis ◽  
Renal Complication

We report two children with focal segmental glomerulosclerosis (FSGS) associated with mitochondrial cytopathy (MC). Case 1 was diagnosed as MC with the findings of ptosis, ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, ragged red fibers in muscle biopsy and the common 4.9 kb deletion in mtDNA when she was four years old. She subsequently developed FSGS four years later. Case 2 was a four month-old girl presenting with feeding difficulty from birth, with vomiting, seizures and nystagmoid eye movements, nephrotic proteinuria and hematuria. Renal biopsy revealed FSGS. Ultrastructural study demonstrated markedly pleomorphic mitochondria in podocytes with a severe effacement of foot processes. The analyses of muscle biopsy and skin fibroblasts for respiratory chain enzymes were found to be normal, while mitochondrial DNA analysis revealed the population of a single deleted mtDNA in the heteroplasmic state. The present cases illustrate FSGS as a rare renal complication of mitochondrial disease and provide further evidence of podocytes possessing abnormal mitochondria which may cause glomerular epithelial cell damage leading to glomerulosclerosis.

Novel homoplasmic mutation in the mitochondrialtRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis

2003 ◽  
Vol 123A (2) ◽  
pp. 172-178 ◽  
Author(s):  
Fernando Scaglia ◽  
Hannes Vogel ◽  
Edith P. Hawkins ◽  
Georgirene D. Vladutiu ◽  
Ling-Ling Liu ◽  
...  
Keyword(s):  
Focal Segmental Glomerulosclerosis ◽  
Mitochondrial Cytopathy ◽  
Segmental Glomerulosclerosis

scholarly journals Focal segmental glomerulosclerosis associated with mitochondrial cytopathy

2000 ◽  
Vol 58 (5) ◽  
pp. 1851-1858 ◽  
Author(s):  
Luc Moulonguet Doleris ◽  
Gary S. Hill ◽  
Pierre Chedin ◽  
Dominique Nochy ◽  
Christine Bellanne-Chantelot ◽  
...  
Keyword(s):  
Focal Segmental Glomerulosclerosis ◽  
Mitochondrial Cytopathy ◽  
Segmental Glomerulosclerosis
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