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Recurrent pancreatitis in mitochondrial cytopathy.
François-Guillaume Debray1, Eric Drouin, Denise Herzog
1Division of Medical Genetics, Hôpital Sainte-Justine, Montreal, Québec, Canada.
American Journal of Medical Genetics. Part A
|October 6, 2006
Summary
Mitochondrial diseases, like Kearns-Sayre syndrome, can cause pancreatitis, a rare pancreatic manifestation. Consider pancreatitis in mitochondrial patients with abdominal pain.
Area of Science:
- Endocrinology and Metabolism
- Genetics and Hereditary Diseases
- Gastroenterology
Background:
- Diabetes mellitus and exocrine insufficiency are well-documented pancreatic issues in mitochondrial diseases.
- Pancreatitis is an infrequently reported manifestation of mitochondrial syndromes.
Observation:
- This report details a patient with Kearns-Sayre syndrome experiencing recurrent acute pancreatitis.
- The pancreatitis episodes lacked an alternative explanation, suggesting a link to mitochondrial dysfunction.
Findings:
- Mitochondrial dysfunction is implicated as a potential cause of pancreatitis.
- Pharmacological disruption of mitochondrial metabolism in models and patients has been shown to induce pancreatitis.
Implications:
- Pancreatitis should be considered in the differential diagnosis for mitochondrial disease patients presenting with recurrent abdominal pain.
- This highlights a potential, under-recognized gastrointestinal complication of mitochondrial disorders.
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