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贵州医药 2021年第6期45卷 957-959页

作者：陈林汪希珂贵州省人民院儿科心血管病区贵州贵阳550002

糖原贮积症II型(GSDII),又称Pompe病,该病是由于溶酶体内的酸性α-葡萄糖苷酶(GAA)基因缺陷引起[1],是少见的常染色体隐性遗传病。由于GAA基因突变,溶酶体内GAA缺失或含量显著降低,导致糖原不能被降解而在骨骼肌、心肌及平滑肌等细胞的... 详细信息

糖原贮积症II型(GSDII),又称Pompe病,该病是由于溶酶体内的酸性α-葡萄糖苷酶(GAA)基因缺陷引起[1],是少见的常染色体隐性遗传病。由于GAA基因突变,溶酶体内GAA缺失或含量显著降低,导致糖原不能被降解而在骨骼肌、心肌及平滑肌等细胞的溶酶体中沉积,溶酶体肿胀、细胞破坏及脏器功能的损害,从而引发肌肉无力、心肌肥大、心功能不全等一系列临床表现,严重者可因呼吸循环衰竭而死亡[2]。

关键词：糖原贮积病快速性心律失常肥厚型心肌病心力衰竭临床资料

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肝腺瘤的诊断与处理

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腹部外科 2012年第3期25卷 134-135页

作者：吕云福海南省人民医院普外科海口573011

1985年Edmondson最早将肝腺瘤定义为不含胆管且有包膜的肝脏肿瘤。肝腺瘤发病率为0．3／10万，长期口服避孕药者发病率为3／10万～4／10万。目前认为避孕药中乙烯雌二醇甲酯在肝腺瘤的发生中起主要作用，新一代避孕药物因雌二醇含量较... 详细信息

1985年Edmondson最早将肝腺瘤定义为不含胆管且有包膜的肝脏肿瘤。肝腺瘤发病率为0．3／10万，长期口服避孕药者发病率为3／10万～4／10万。目前认为避孕药中乙烯雌二醇甲酯在肝腺瘤的发生中起主要作用，新一代避孕药物因雌二醇含量较低，女性肝腺瘤发病率明显下降。另外，口服甲基睾酮或达那唑、先天性睾丸发育不全综合征因导致性激素紊乱或糖原贮积病诱发肝腺瘤。

关键词：肝腺瘤先天性睾丸发育不全综合征口服避孕药雌二醇含量诊断糖原贮积病性激素紊乱发病率

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具有异常表型患者的α-葡糖苷酶酸基因突变

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世界核心医学期刊文摘（神经病学分册） 2005年第6期1卷 47-48页

作者： Anneser J.M.H. Pongratz D.E. Podskarbi T. 张玉龙 Department of Neurology University of Munich Klinikum Grosshadern D- 81366 Munich Germany Dr.

Glycogenosis type II (Pompe disease) is a lysosomal storage disease caused by deficiency of acid α - glucosidase (acid maltase). The disease is autosomal recessive inherited and is clinically and genetically heterogenous. The authors describe a 30- year- old woman affected by late- onset Pompe disease with vascular affection resembling atherosclerotic angiopathy of the elderly. Genetic analysis revealed two novel mutations (Ala237Val and Gly293Arg) in the acid α - glucosidase gene in this patient.

关键词：基因突变 α-葡糖苷酶基因分析糖原贮积病溶酶体贮积病庞贝血管病异质性酸基

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54例荷兰籍迟发性Pompe病患者的临床表现和自然病程

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世界核心医学期刊文摘（神经病学分册） 2005年第8期1卷 17-18页

作者： Hagemans M.L.C. Winkel L.P.F. Van Doorn P.A. A.T. Van Der Ploeg 郭俊 Erasmus MC-Sophia Dr Molewaterplein 60 3015 GJ Rotterdam Netherlands Dr.

Late-onset Pompe’s disease (acid maltase deficiency, glycogen storage diseas e type II) is a slowly progressive myopathy caused by deficiency of acid α-glu cosidase. Current developments in enzyme replacement therapy require detailed kn owledge of the kind and severity of symptoms and the natural course of the disea se in the patient population.A detailed questionnaire covering the patients’med ical history and current situation was developed and information was gathered fr om 54 Dutch patients. The mean age of the participants was 48.6 ±15.6 *** first complaints started at a mean age of 28.1±14.3 years and were mostly rela ted to mobility problems and limb-girdle weakness. Fifty-eight percent of the adult patients indicated the presence of mild muscular symptoms during childhood . Twenty-eight percent of the patients waited > 5 years for the final diagnosis after the first visit to a physician for disease related complaints. At the tim e of questionnaire completion,48%of the study population used a wheelchair and 37%used artificial *** such as rising from an armchair,taking stairs or getting upright after bending over were difficult or impossible for m ore than two-thirds of the *** age at onset, the rate of disease pr ogression and the sequence of respiratory and skeletal muscle involvement varied substantially between patients. Seventy-six percent of the participants indica ted being troubled by fatigue and 46%by pain. This survey has mapped the age at onset, presenting symptoms, heterogeneity in progression and range of disease s everity in a large group of Dutch patients. We conclude that early manifestation s in childhood require proper attention to prevent unnecessary delay of the diag nosis. The follow-up of patients with late-onset Pompe’s disease should focus on respiratory and limb-girdle muscle function, the capacity to perform daily activities, and the presentation of fatigue and pain.