BACKGROUND 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 glycog...BACKGROUND 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.CASE SUMMARY 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.CONCLUSION Patients with GSDIa may be misdiagnosed as epilepsy.DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy.展开更多
目的：观察双重血浆置换（DFPP）治疗中患者血清致病抗体[抗肾小球基膜（GBM）抗体和抗中性粒细胞胞质抗体（ANCA）]浓度与免疫球蛋白G（IgG）下降率的差异,并分析其与临床疗效的关系. 方法：28例确诊ANCA相关性血管炎及20例确诊抗GBM...目的：观察双重血浆置换（DFPP）治疗中患者血清致病抗体[抗肾小球基膜（GBM）抗体和抗中性粒细胞胞质抗体（ANCA）]浓度与免疫球蛋白G（IgG）下降率的差异,并分析其与临床疗效的关系. 方法：28例确诊ANCA相关性血管炎及20例确诊抗GBM肾炎的患者接受DFPP治疗,男女各24例,平均年龄44.6±15.6岁,平均治疗次数为2.6±0.9次,28例患者接受≥3次DFPP治疗,治疗剂量为1.5～2.0倍血浆量,使用一级滤器MPS07或EC50W,二级滤器EC20W.分别记录第1～3次治疗前后血清、废液中抗体的浓度（酶标法）和IgG的浓度,比较治疗前后血清及废液中致病抗体浓度（RU/ml）及IgG浓度（g/L）的比值变化.分别记录两种疾病相关临床资料及随访情况. 结果：首次DFPP治疗致病抗体浓度下降率显著低于IgG（34.9％±17.2％ vs 52.1％±11.3％,P＜0.01）,比较GBM抗体及ANCA下降率无差异（37.4％±19.4％ vs 34.0％±16.0％,P＞0.05）.治疗三次以上患者前三次致病抗体下降率分别为31.8％±14.3％、36.5％± 18.5％及39.5％±18.5％,无明显差异,各次kG下降率亦无差异（50.3％±11.1％、47.4％±10.2％及44.6％±10.5％,P＞0.05）,但各次抗体下降率都显著低于IgG下降率.治疗后血清致病抗体/IgG比值显著高于治疗前（24.8±12.5 vs 17.3±7.6,P＜0.001）,其在废液中比值与治疗前血清中比值相当（17.7±10.4 vs 17.3±7.6,P＜0.05）.前两次治疗后致病抗体的反弹率无明显差异（17.5％±20.6％ vs21.4％±31.1％,P＞0.05）,IgG的反弹率亦无差别（60.6％±39.6％ vs 48.9％±24.4％,P＞0.05）,两次治疗后IgG反弹率都明显高于致病抗体反弹率（首次60.6％±39.6％ vs 17.5％±20.6％;第二次48.9％±24.4％ vs 21.4％±31.1％,P＜0.001）.抗GBM抗体相关肾损害中抗体下降率低的患者血清肌酐、抗GBM抗体滴度明显高于抗体下降率好的患者（P均＜0.05）. 结论：DFPP治疗后致病抗体浓度及IgG水平的下降率和反弹率均存在明显差异;这种差异的原因可能并非DFPP清除造成,因为废液中抗体/IgG比值与治疗前血液比值相当.抗体下降率的差异可能与抗GBM肾炎患者的临床症状相关,但与患者预后的关系尚不明了.展开更多
文摘BACKGROUND 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.CASE SUMMARY 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.CONCLUSION Patients with GSDIa may be misdiagnosed as epilepsy.DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy.
文摘目的：观察双重血浆置换（DFPP）治疗中患者血清致病抗体[抗肾小球基膜（GBM）抗体和抗中性粒细胞胞质抗体（ANCA）]浓度与免疫球蛋白G（IgG）下降率的差异,并分析其与临床疗效的关系. 方法：28例确诊ANCA相关性血管炎及20例确诊抗GBM肾炎的患者接受DFPP治疗,男女各24例,平均年龄44.6±15.6岁,平均治疗次数为2.6±0.9次,28例患者接受≥3次DFPP治疗,治疗剂量为1.5～2.0倍血浆量,使用一级滤器MPS07或EC50W,二级滤器EC20W.分别记录第1～3次治疗前后血清、废液中抗体的浓度（酶标法）和IgG的浓度,比较治疗前后血清及废液中致病抗体浓度（RU/ml）及IgG浓度（g/L）的比值变化.分别记录两种疾病相关临床资料及随访情况. 结果：首次DFPP治疗致病抗体浓度下降率显著低于IgG（34.9％±17.2％ vs 52.1％±11.3％,P＜0.01）,比较GBM抗体及ANCA下降率无差异（37.4％±19.4％ vs 34.0％±16.0％,P＞0.05）.治疗三次以上患者前三次致病抗体下降率分别为31.8％±14.3％、36.5％± 18.5％及39.5％±18.5％,无明显差异,各次kG下降率亦无差异（50.3％±11.1％、47.4％±10.2％及44.6％±10.5％,P＞0.05）,但各次抗体下降率都显著低于IgG下降率.治疗后血清致病抗体/IgG比值显著高于治疗前（24.8±12.5 vs 17.3±7.6,P＜0.001）,其在废液中比值与治疗前血清中比值相当（17.7±10.4 vs 17.3±7.6,P＜0.05）.前两次治疗后致病抗体的反弹率无明显差异（17.5％±20.6％ vs21.4％±31.1％,P＞0.05）,IgG的反弹率亦无差别（60.6％±39.6％ vs 48.9％±24.4％,P＞0.05）,两次治疗后IgG反弹率都明显高于致病抗体反弹率（首次60.6％±39.6％ vs 17.5％±20.6％;第二次48.9％±24.4％ vs 21.4％±31.1％,P＜0.001）.抗GBM抗体相关肾损害中抗体下降率低的患者血清肌酐、抗GBM抗体滴度明显高于抗体下降率好的患者（P均＜0.05）. 结论：DFPP治疗后致病抗体浓度及IgG水平的下降率和反弹率均存在明显差异;这种差异的原因可能并非DFPP清除造成,因为废液中抗体/IgG比值与治疗前血液比值相当.抗体下降率的差异可能与抗GBM肾炎患者的临床症状相关,但与患者预后的关系尚不明了.
