一提到慢性腹泻腹胀,人们常联想到胃肠道的感染。如果长期反复出现进食后呕吐,人们常想到是否患了神经性厌食或者慢性胃炎。就是出现消瘦,人们也常与缺乏营养联想到一起。其实在有些情况下,这些症状的出现可能和胃肠道感染或功能失调没有什么关系。最近北大医院神经内科和儿科的大夫们在对一个长期反复出现进食后呕吐的患儿进行的肌肉活检中发现,线粒体病变也可导致患者出现慢性胃肠道的功能异常。这个10多岁的男孩长期存在食欲差、进食后出现呕吐的情况,开始家长还认为孩子只是不好好吃饭或者是神经性厌食,后来孩子越来越瘦,才引起家长的注意。他们带孩子到医院进行常规检查,结果孩子的血肌酶和乳酸有轻度的升高,医生考虑孩子可能患了一种线粒体病。通过给孩子做肌肉活检,发现其骨骼肌内存在大量的异常线粒体,显然孩子进食后的呕吐和线粒体异常有关。 Mention of chronic diarrhea bloating, people often think of gastrointestinal infections. If long-term repeated vomiting after eating, people often think of whether suffering from anorexia nervosa or chronic gastritis. Is to appear weight loss, people often associate with the lack of nutrition together. In fact, in some cases, the appearance of these symptoms may not be related to gastrointestinal infections or dysfunction. Recently, neurological and pediatric doctors at Peking University Hospital found in a muscle biopsy of a recurrent emesis-prone child that mitochondrial lesions can also cause patients with chronic gastrointestinal dysfunction. The 10-year-old boy has long been suffering from poor appetite and vomiting after eating. From the beginning, parents also think that children just do not eat well or are anorexia nervosa. Later, children become more and more skinny, causing their parents’ attention. They take the children to the hospital for routine examination, the results of the child’s serum creatine kinase and lactate slightly increased, the doctor considered the child may have a mitochondrial disease. By doing muscle biopsy to children, it is found that there are a large number of abnormal mitochondria in skeletal muscle, which is obviously related to the emesis and mitochondrial abnormalities after eating.