Reference : Recurrent pancreatitis in mitochondrial cytopathy.
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/87742
Recurrent pancreatitis in mitochondrial cytopathy.
English
DEBRAY, François-Guillaume mailto [> > > >]
Drouin, Eric [> > > >]
Herzog, Denise [> > > >]
Lortie, Anne [> > > >]
Lambert, Marie [> > > >]
Garel, Laurent [> > > >]
Mitchell, Grant A [> > > >]
Michaud, Jacques L [> >]
2006
American Journal of Medical Genetics. Part A
Wiley Liss, Inc.
140
21
2330-5
Yes (verified by ORBi)
International
1552-4825
1552-4833
Hoboken
NJ
[en] Acute Disease ; Adolescent ; DNA Mutational Analysis ; DNA, Mitochondrial/genetics ; Humans ; Kearns-Sayre Syndrome/complications/genetics ; Male ; Pancreatic Pseudocyst/complications/radiography ; Pancreatitis/complications/radiography ; Recurrence ; Sequence Deletion ; Tomography, X-Ray Computed
[en] 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.
http://hdl.handle.net/2268/87742
10.1002/ajmg.a.31457

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