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

BMC Nephrology

Case Report

Laura Davico Bonino¹  Isabelle Brocheriou²  Francesco Porpiglia³  Paola Campisi⁴  Gabriella Restagno⁵  Martina Ferraresi⁶  Federica Fassio⁶  Federica Neve Vigotti⁶  Giorgina Barbara Piccoli⁷ 

[1] Anatomia Patologica ASOU Molinette, Torino, Italy;Assistance Publique- Hôpitaux de Paris, Hôpital Tenon, Department of Pathology, Université Pierre et Marie Curie Univ Paris 06, Paris, France;Department of Medical and Biological Sciences. SS Nephrology, ASOU san Luigi Gonzaga, Regione Gonzole, Orbassano, Torino, Italy;Department of Pathology, Laboratory of Pathology, Molinette Hospital, Turin, Italy;Genetica Medica, ASOU OIRM sant'Anna, Torino, Italy;SS Nephrology ASOU san Luigi, Orbassano, Torino, Italy;SS Nephrology ASOU san Luigi, Orbassano, Torino, Italy;Department of Medical and Biological Sciences. SS Nephrology, ASOU san Luigi Gonzaga, Regione Gonzole, Orbassano, Torino, Italy;

关键词: MELAS syndrome;    Chronic kidney disease;    Renal vascular;    Disease;    Kidney cancer;   

DOI  :  10.1186/1471-2369-13-9

 received in 2011-07-18, accepted in 2012-02-21,  发布年份 2012

来源: Springer

【 摘 要 】

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

【 授权许可】

CC BY   
© Piccoli et al; licensee BioMed Central Ltd. 2012