Brief Article
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World J Gastroenterol. Sep 7, 2012; 18(33): 4557-4562
Published online Sep 7, 2012. doi: 10.3748/wjg.v18.i33.4557
Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases
Yusuke Sekino, Masahiko Inamori, Eiji Yamada, Hidenori Ohkubo, Eiji Sakai, Takuma Higurashi, Hiroshi Iida, Kunihiro Hosono, Hiroki Endo, Takashi Nonaka, Hirokazu Takahashi, Tomoko Koide, Yasunobu Abe, Eiji Gotoh, Shigeru Koyano, Yoshiyuki Kuroiwa, Shin Maeda, Atsushi Nakajima
Yusuke Sekino, Masahiko Inamori, Eiji Yamada, Hidenori Ohkubo, Eiji Sakai, Takuma Higurashi, Hiroshi Iida, Kunihiro Hosono, Hiroki Endo, Takashi Nonaka, Hirokazu Takahashi, Tomoko Koide, Yasunobu Abe, Shin Maeda, Atsushi Nakajima, Gastroenterology Division, Yokohama City University School of Medicine, Yokohama 236-0004, Japan
Eiji Gotoh, Department of Medical Education, Yokohama City University School of Medicine, Yokohama 236-0004, Japan
Shigeru Koyano, Yoshiyuki Kuroiwa, Department of Neurology, Yokohama City University School of Medicine, Yokohama 236-0004, Japan
Author contributions: Sekino Y, Inamori M, Iida H, Nonaka T and Nakajima A performed the majority of clinical and treatment data collection; Takahashi H, Koide T, Abe Y, Gotoh E, Kuroiwa Y and Maeda S were involved in the editing of the manuscript; Yamada E, Ohkubo H, Sakai E, Higurashi T, Hosono K and Endo H analyzed the clinical data and participated in the design and coordination of the study; Sekino Y, Inamori M, Iida H, Nonaka T, Koyano S and Nakajima A designed the study and wrote the manuscript.
Supported by Health and Labour Sciences Research Grants for Research on Intractable Diseases, awarded to Nakajima A, from the Ministry of Health, Labour and Welfare of Japan
Correspondence to: Dr. Masahiko Inamori, Gastroenterology Division, Yokohama City University School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan. inamorim@med.yokohama-cu.ac.jp
Telephone: +81-45-7872640 Fax: +81-45-7843546
Received: December 30, 2011
Revised: March 9, 2012
Accepted: March 20, 2012
Published online: September 7, 2012
Abstract

AIM: To reveal the frequency, characteristics and prog-nosis of chronic intestinal pseudo-obstruction (CIP) in mitochondrial disease patients.

METHODS: Between January 2000 and December 2010, 31 patients (13 males and 18 females) were diagnosed with mitochondrial diseases at our hospital. We conducted a retrospective review of the patients’ sex, subclass of mitochondrial disease, age at onset of mitochondrial disease, frequency of CIP and the age at its onset, and the duration of survival. The age at onset or at the first diagnosis of the disorder that led to the clinical suspicion of mitochondrial disease was also examined.

RESULTS: Twenty patients were sub-classified with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS), 8 with chronic progressive external ophthalmoplegia (CPEO), and 3 with myoclonus epilepsy associated with ragged-red fibers (MERRF). Nine patients were diagnosed with CIP, 8 of the 20 (40.0%) patients with MELAS, 0 of the 8 (0.0%) patients with CPEO, and 1 of the 3 (33.3%) patients with MERRF. The median age (range) at the diagnosis and the median age at onset of mitochondrial disease were 40 (17-69) and 25 (12-63) years in patients with CIP, and 49 (17-81) and 40 (11-71) years in patients without CIP. During the survey period, 5 patients (4 patients with MELAS and 1 with CPEO) died. The cause of death was cardiomyopathy in 2 patients with MELAS, cerebral infarction in 1 patient with MELAS, epilepsy and aspiration pneumonia in 1 patient with MELAS, and multiple metastases from gastric cancer and aspiration pneumonia in 1 patient with CPEO.

CONCLUSION: Patients with CIP tend to have disorders that are suspected to be related to mitochondrial diseases at younger ages than are patients without CIP.

Keywords: Chronic intestinal pseudo-obstruction; Criteria; Mitochondrial disease; Mitochondrial encephalopathy; Lactic acidosis; Stroke-like episodes; Chronic progressive external ophthalmoplegia