Yanagawa T, Sakaguchi H, Nakao T, Sasaki H, Matsumoto G, Sanke T, Nanjo K
First Department of Medicine, Wakayama University of Medical Science.
Intern Med. 1998 Sep;37(9):780-3. doi: 10.2169/internalmedicine.37.780.
We report a 31-year-old woman who developed myopathy and neuropathy during pregnancy. She was diagnosed as having mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). A T-to-C transition mutation at nucleotide position 3271 was detected in the mitochondrial gene. Her symptoms subsided spontaneously and she delivered a male infant at 38 weeks of gestation. Prior reports on mitochondrial diseases with pregnancy are very rare, probably because of the early onset of the disease. The metabolic changes during pregnancy increase the stress on the mitochondrial function, particularly in patients with impaired mitochondrial function. Therefore pregnancy can aggravate mitochondrial diseases.
我们报告一名31岁女性，她在孕期出现了肌病和神经病变。她被诊断为患有线粒体肌病、脑病、乳酸性酸中毒和卒中样发作（MELAS）。在线粒体基因中检测到核苷酸位置3271处的T到C转换突变。她的症状自发缓解，并在妊娠38周时分娩了一名男婴。先前关于线粒体疾病合并妊娠的报道非常罕见，可能是因为该疾病起病较早。孕期的代谢变化会增加线粒体功能的压力，尤其是在线粒体功能受损的患者中。因此，妊娠会加重线粒体疾病。
