Objective To summarize the clinical features of glycogen storage disease type Ⅱ (GSD Ⅱ) combined with pregnancy.Methods The literature review was conducted based on the cases published and the one hospitalized in our hospital.Results GSD Ⅱ is an autosomal recessive hereditary disease,which is attributed to the muatation of α-glucosidase gene.Followed by the decreased activity of α-glucosidase enzyme,the glycogen cannot be degradated and deposited in the tissues and organs,and thus causing the clinical spectrum.The type of late onset mainly involves respiratory muscles,and the physical changes during pregnany may worsen the disease.Conclusion The patients with GSD II are not unable to get pregnancy,but they should undertake genetic counseling before pregnancy.During pregnancy,except for regular prenatal care and close monitoring,we should build up multidisciplinary collaboration,and personally appropriate way of delivery.%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.
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