医学
低血糖
高脂血症
怀孕
高尿酸血症
内科学
高胰岛素血症
糖原贮积病
内分泌学
儿科
糖原
胃肠病学
外科
糖尿病
胰岛素
胰岛素抵抗
尿酸
生物
遗传学
作者
Jie Wang,Yi Zhao,Ci Pan,Bin Liu,Rong Ye
出处
期刊:World Journal of Clinical Cases
[Baishideng Publishing Group Co (World Journal of Clinical Cases)]
日期:2022-10-06
卷期号:10 (28): 10273-10278
标识
DOI:10.12998/wjcc.v10.i28.10273
摘要
Glycogen storage disease type Ia (GSDIa) is an autosomal recessive inborn error of carbohydrate metabolism that is caused by deficiency of the enzyme glucose-6-phosphatase (G6Pase), leading to disturbed glycogenolysis and gluconeogenesis. Patients with GSDIa show severe fasting hypoglycemia, hyperlipidemia, hyperlactacidemia, and hyperuricemia, which are associated with fatal outcomes in pregnant women and fetuses.Herein, we report the case of a 24-year-old female who on her first visit to the hospital, presented with pregnancy combined with extremely high hyperlipidemia and hyperlactic acidosis with anemia, and frequent hypoglycemia occurred during the treatment. Genetic tests revealed a mutation in the G6Pase gene (G6PC) at 17q21, the patient was finally diagnosed with glycogen storage disease type Ia for the first time after 22 years of inaccurate treatment. She has been treated with a continuous double filtration plasmapheresis (DFPP) strategy to remove blood lipids, and a cornstarch diet therapy. The patient did not develop pancreatitis during the course of the disease and a healthy baby girl weighing 3 kg was delivered.Patients with GSDIa may be misdiagnosed as epilepsy. DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy.
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