线粒体疾病患者的假性肠梗阻的特征。
Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases.
机构信息
Gastroenterology Division, Yokohama City University School of Medicine, Yokohama 236-0004, Japan.
出版信息
World J Gastroenterol. 2012 Sep 7;18(33):4557-62. doi: 10.3748/wjg.v18.i33.4557.
AIM
To reveal the frequency, characteristics and prognosis 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.
目的
揭示慢性肠道假性梗阻（CIP）在线粒体疾病患者中的频率、特征和预后。
方法
回顾性分析 2000 年 1 月至 2010 年 12 月在我院确诊的 31 例线粒体疾病患者的临床资料，分析患者的性别、线粒体疾病亚类、线粒体疾病发病年龄、CIP 发病年龄及生存时间、导致临床怀疑线粒体疾病的疾病的发病年龄或首次诊断年龄。
结果
20 例患者分为线粒体脑肌病伴乳酸酸中毒和卒中样发作（MELAS）13 例，慢性进行性眼外肌麻痹（CPEO）8 例，肌阵挛性癫痫伴破碎红纤维（MERRF）3 例。9 例患者被诊断为 CIP，MELAS 患者 20 例（40.0%）中有 8 例，CPEO 患者 8 例（0.0%）中无 1 例，MERRF 患者 3 例（33.3%）中有 1 例。CIP 患者的诊断年龄（范围）中位数（四分位间距）为 40（17-69）岁，线粒体疾病发病年龄中位数（四分位间距）为 25（12-63）岁；无 CIP 患者的诊断年龄中位数（四分位间距）为 49（17-81）岁，线粒体疾病发病年龄中位数（四分位间距）为 40（11-71）岁。在研究期间，有 5 例患者（MELAS 患者 4 例，CPEO 患者 1 例）死亡。MELAS 患者中 2 例死于扩张型心肌病，1 例死于脑梗死，1 例死于 MELAS 合并癫痫和吸入性肺炎，CPEO 患者死于胃癌多处转移和吸入性肺炎。
结论
与无 CIP 的患者相比，有 CIP 的患者发生疑似与线粒体疾病相关的疾病的年龄更小。
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