title: Recurrent pancreatitis in mitochondrial cytopathy.
abstract: Diabetes mellitus and exocrine insufficiency are the commonest pancreatic manifestations of mitochondrial diseases. In contrast, pancreatitis has rarely been described in mitochondrial syndromes. We report on a patient with Kearns-Sayre syndrome and recurrent episodes of acute pancreatitis for which no explanation could be found other than the associated mitochondrial dysfunction. Interestingly, pharmacological disruption of mitochondrial metabolism in various models as well as in patients can cause pancreatitis, further supporting this association. A diagnosis of pancreatitis should be considered in any patients with mitochondrial disease and recurrent abdominal pain.
authors.affiliation: Division of Medical Genetics, Hôpital Sainte-Justine, Montreal, Québec, Canada.
authors.forename: François-Guillaume
authors.initials: FG
authors.lastname: Debray
authors.forename: Eric
authors.initials: E
authors.lastname: Drouin
authors.forename: Denise
authors.initials: D
authors.lastname: Herzog
authors.forename: Anne
authors.initials: A
authors.lastname: Lortie
authors.forename: Marie
authors.initials: M
authors.lastname: Lambert
authors.forename: Laurent
authors.initials: L
authors.lastname: Garel
authors.forename: Grant A
authors.initials: GA
authors.lastname: Mitchell
authors.forename: Jacques L
authors.initials: JL
authors.lastname: Michaud
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D010192:Pancreatic Pseudocyst / Q000150:complications / Q000000981:diagnostic imaging; D010195:Pancreatitis / Q000150:complications* / Q000000981:diagnostic imaging; D012008:Recurrence; D017384:Sequence Deletion; D014057:Tomography, X-Ray Computed
chemical_list: D004272:DNA, Mitochondrial