【摘要】：目的總結(jié)糖原貯積癥合并妊娠的診療特點(diǎn)。方法結(jié)合本院收治的1例患者,檢索相關(guān)文獻(xiàn),進(jìn)行文獻(xiàn)復(fù)習(xí)。結(jié)果糖原貯積癥II型(GSD II)是一種常染色體隱性遺傳病,是由于酸性α-葡糖苷酶(GAA)基因突變,α-葡糖苷酶活性降低,使糖原不能被降解,而沉積在各組織器官中,引起臨床癥狀,晚發(fā)型主要累及呼吸肌,妊娠期的生理變化可能會(huì)加重疾病進(jìn)展。結(jié)論 GSD II患者并非不能妊娠,但妊娠前應(yīng)進(jìn)行遺傳咨詢,孕期應(yīng)規(guī)律產(chǎn)檢、嚴(yán)密監(jiān)測(cè),多學(xué)科協(xié)作,制定適宜的分娩方式。
[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 偽 -glucosidase (GAA) gene and the decrease of 偽 -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.
【作者單位】： 北京大學(xué)第三醫(yī)院婦產(chǎn)科;
【分類號(hào)】：R714.25

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