Unusual exocrine complication of pancreatitis in mitochondrial disease

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• 作者：Akihiko Ishiyama ; Hirofumi Komaki ; Takashi Saito ; Yoshiaki Saito ; Eiji Nakagawa ; Kenji Sugai ; Yusuke Itagaki ; Koji Matsuzaki ; Michiaki Nakura ; Ichizo Nishino ; Yu-ichi Goto ; Masayuki Sasaki
• 关键词：Mitochondrial disease ; Pancreatitis ; CPEO ; MELAS
• 刊名：Brain and Development
• 出版年：2013
• 出版时间：August, 2013
• 年：2013
• 卷：35
• 期：7
• 页码：654-659
• 全文大小：301 K

文摘

No association between mitochondrial disease and pancreatitis has yet been established, although diabetes mellitus and diseases caused by exocrine insufficiency, such as Pearson syndrome, are the commonest pancreatic complications of mitochondrial diseases. Here, we report 2 cases of mitochondrial disease complicated by pancreatitis as an unusual pancreatic exocrine manifestation. One patient was a 10-year-old girl with mild retardation of psychomotor development who had experienced recurrent pancreatitis since the age of 4 years. Chronic progressive external ophthalmoplegia (CPEO) due to m.8344A>G mutation was diagnosed when the patient was 10 years old. The other patient was a 28-year-old woman who was diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) due to m.3243A>G mutation at 10 years of age. She had experienced regular recurrent vomiting since the age of 16 and suffered an episode of critical pancreatitis at 23 years. In both cases, no possible etiological, morphological, or genetic factors for pancreatitis were identified, including anomalous pancreaticobiliary duct. A combination therapy of the standard treatment for chronic pancreatitis and supportive therapy for mitochondrial energy production may be beneficial to prevent the recurrence of acute pancreatitis complicating mitochondrial diseases. The pathophysiological mechanism of pancreatitis in mitochondrial disease has not been adequately established; however, our observations suggest that pancreatitis should be included in the list of pancreatic complications of mitochondrial disease.