Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome

• DOI: 10.1186/1471-2369-13-9
• Publication Date: 2012-02-21T17:23:00Z
• Authors: Giorgina Barbara ...; Laura Davico Bonino; Paola Campisi; Federica Neve Vig...; Martina Ferraresi; Federica Fassio; Isabelle Brocheriou; Francesco Porpiglia; Gabriella Restagno
• Keywords: Lactic acidosis; Glomerulosclerosis; Nephrology

MELAS syndrome (MIM ID#540000), an acronym for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with protean manifestations occasional kidney involvement. Interest in the latter rising due to identification of cases predominant involvement hypothesis link between DNA neoplasia.We report case 41-year-old male full blown syndrome, lactic acidosis neurological impairment, affected by "classic" 3243A > G mutation DNA, cancer. After unilateral nephrectomy, he rapidly developed severe functional nephrotic proteinuria. Analysis tissue at distance from two tumor lesions, sampled time nephrectomy was performed context normal blood pressure, recent onset diabetes before appearance The morphological examination revealed widespread interstitial fibrosis dense inflammatory infiltrate tubular atrophy, mostly thyroidization pattern. Vascular lesions were prominent: large vessels displayed marked intimal arterioles had hyaline deposits typical arteriolosclerosis. These vascular explained different glomerular alterations including ischemic obsolescent glomeruli, as commonly observed so-called "benign" arteriolonephrosclerosis. Some rare glomeruli showed focal segmental glomerulosclerosis; patient subsequently these suggest that silent changes may result development glomerulosclerosis secondary nephron loss.Nephron loss trigger sclerosis, least some MELAS-related nephropathy. Thus incidence disease "survivors" increase support therapy patients improves.