title: Kidney involvement in MELAS syndrome: Description of 2 cases.
abstract: BACKGROUND
  MELAS syndrome -myopathy, encephalopathy, lactic acidosis and stroke-like episodes- is a maternally-inherited mitochondrial cytopathy related to several mitochondrial DNA mutations, with the A3243G mutation in tRNALeugene being the most frequent of them.
  
  
  METHODS
  Apart from its typical symptomatology, patients usually exhibit a maternally-inherited history of neurosensory deafness and insulin-dependent type 2 diabetes mellitus (T2DM). Recent studies have shown that few patients carrying a A3243G mutation also suffer from renal dysfunction, usually in form of focal segmental glomerulosclerosis (FSGS).
  
  
  RESULTS
  In this study we examine kidney involvement in 2 unrelated patients with a A3243G mutation by genetic testing. Both have a maternally-inherited neurosensory deafness and insulin-dependent T2DM. A renal biopsy was performed in both patients. One patient developed nephrotic proteinuria and renal insufficiency, with FSGS findings being observed in the kidney biopsy, whereas the other suffered from mild proteinuria and renal insufficiency, with non-specific glomerular changes.
  
  
  CONCLUSIONS
  The presence of FSGS or other kidney involvement accompanied by hereditary neurosensory deafness and T2DM could be suggestive of a A3243G tRNALeumutation and should prompt a genetic testing and an evaluation of potential extrarenal involvement.
authors.affiliation: Servei de Nefrologia i Trasplantament Renal, Hospital Clínic, Universidad de Barcelona, Barcelona, España.
authors.forename: Pau
authors.initials: P
authors.lastname: Alcubilla-Prats
authors.affiliation: Servei de Anatomia Patològica, Hospital Clínic, Universidad de Barcelona, Barcelona, España.
authors.forename: Manel
authors.initials: M
authors.lastname: Solé
authors.affiliation: Servei de Nefrologia i Trasplantament Renal, Hospital Clínic, Universidad de Barcelona, Barcelona, España.
authors.forename: Albert
authors.initials: A
authors.lastname: Botey
authors.affiliation: Servei de Medicina Interna, Hospital Clínic, Universidad de Barcelona, Barcelona, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Hospital Clínic, Universidad de Barcelona, Barcelona, España.
authors.forename: Josep Maria
authors.initials: JM
authors.lastname: Grau
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Hospital Clínic, Universidad de Barcelona, Barcelona, España; Cellex, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universidad de Barcelona, Barcelona, España.
authors.forename: Glòria
authors.initials: G
authors.lastname: Garrabou
authors.affiliation: Servei de Nefrologia i Trasplantament Renal, Hospital Clínic, Universidad de Barcelona, Barcelona, España. Electronic address: epoch@clinic.cat.
authors.forename: Esteban
authors.initials: E
authors.lastname: Poch
mesh_terms: D000328:Adult; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D051437:Renal Insufficiency / Q000175:diagnosis / Q000209:etiology*
keywords: A3243G mutation; Chronic kidney disease; Citopatía mitocondrial; Focal segmental glomerulosclerosis; Glomeruloesclerosis focal segmentaria; Insuficiencia renal crónica; Mitochondrial cythopathy; Mutación A3243G