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Am J Med Genet A. 2006 Nov 1;140(21):2330-5.

Recurrent pancreatitis in mitochondrial cytopathy.

Author information

1
Division of Medical Genetics, Hôpital Sainte-Justine, Montreal, Québec, Canada.

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.

PMID:
17022070
DOI:
10.1002/ajmg.a.31457
[Indexed for MEDLINE]

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