糖原贮积症II型合并早孕终止妊娠病例报告和文献复习
发布时间：2018-09-12 20:22
【摘要】：目的总结糖原贮积症合并妊娠的诊疗特点。方法结合本院收治的1例患者,检索相关文献,进行文献复习。结果糖原贮积症II型(GSD II)是一种常染色体隐性遗传病,是由于酸性α-葡糖苷酶(GAA)基因突变,α-葡糖苷酶活性降低,使糖原不能被降解,而沉积在各组织器官中,引起临床症状,晚发型主要累及呼吸肌,妊娠期的生理变化可能会加重疾病进展。结论 GSD II患者并非不能妊娠,但妊娠前应进行遗传咨询,孕期应规律产检、严密监测,多学科协作,制定适宜的分娩方式。
[Abstract]:Objective to summarize the diagnosis and treatment of glycogen storage syndrome with pregnancy. Methods A case of patients treated in our hospital was reviewed. Results II type (GSD II) was an autosomal recessive hereditary disease, which was caused by the mutation of acid 伪 -glucosidase (GAA) gene and the decrease of 伪 -glucosidase activity, which caused the glycogen not to be degraded, but deposited in various tissues and organs, causing clinical symptoms. Late onset mainly involves respiratory muscles, and physiological changes during pregnancy may aggravate the progression of the disease. Conclusion it is not impossible for GSD II patients to be pregnant, but genetic counseling should be carried out before pregnancy. Regular birth examination, close monitoring and multi-disciplinary cooperation should be carried out during pregnancy, and appropriate delivery methods should be worked out.
【作者单位】： 北京大学第三医院妇产科;
【分类号】：R714.25
[Abstract]:Objective to summarize the diagnosis and treatment of glycogen storage syndrome with pregnancy. Methods A case of patients treated in our hospital was reviewed. Results II type (GSD II) was an autosomal recessive hereditary disease, which was caused by the mutation of acid 伪 -glucosidase (GAA) gene and the decrease of 伪 -glucosidase activity, which caused the glycogen not to be degraded, but deposited in various tissues and organs, causing clinical symptoms. Late onset mainly involves respiratory muscles, and physiological changes during pregnancy may aggravate the progression of the disease. Conclusion it is not impossible for GSD II patients to be pregnant, but genetic counseling should be carried out before pregnancy. Regular birth examination, close monitoring and multi-disciplinary cooperation should be carried out during pregnancy, and appropriate delivery methods should be worked out.
【作者单位】： 北京大学第三医院妇产科;
【分类号】：R714.25
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