摘要
例1女,29岁。10年前无明显诱因下出现对称性双下肢近端肌无力,下蹲困难,颜面部及双下肢轻度浮肿,双上肢抬举轻度受限,休息后能有一定程度的缓解,自认为劳累引起,故未去医院就诊。此后双下肢近端肌无力症状时常出现,
出处
《中华风湿病学杂志》
CAS
CSCD
北大核心
2014年第3期215-216,I0001,共3页
Chinese Journal of Rheumatology
参考文献11
-
1芮小江,田丁军.糖原累积症误诊为多发性肌炎一例[J].临床误诊误治,2006,19(2):17-17. 被引量:4
-
2张巍,鲍春德,顾越英,戴青,陆钦池.以痛风肌炎为临床表现的糖原累积症三例及文献复习[J].中华风湿病学杂志,2007,11(9):535-537. 被引量:2
-
3Hermans MM, van Leenen D, Kroos MA, et al. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type Ⅱ [J]. Human Mutation, 2004, 23 : 47-56.
-
4Chien YH, Hwu WL, Lee NC. Pompe disease: early diagnosis and early treatment make a difference [J]. Pediatr Neonatol, 2013, 54: 219-227.
-
5Winkel LP, Hagemans ML, vaa Doom PA. The natural course of nan-classic Pompe's disease: a review of 225 published cases[J]. J Neurol, 2005, 252: 875-884.
-
6Huidekoper HH, Visser G, Ackermans MT, et al. A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type la and fructose-l, 6-bisphos- phatase deficiency[J]. J Inher Metab Dis, 2010, 33: 25-31.
-
7Hagemans ML, Winkel LP, van Doom PA, et al. Clinical mani- festation and natural course of late-onset Pompe's disease in 54 Dutch patients[J]. Brain, 2005, 128: 671-677.
-
8赵冰,李伟,焉传祝.糖原累积病Ⅱ型的诊治进展[J].中华神经科杂志,2012,45(1):56-57. 被引量:5
-
9刘芳,陈黔妹,王晓杰,王英.多发性肌炎患者神经电生理特点分析[J].脑与神经疾病杂志,2013,21(1):26-28. 被引量:3
-
10曲宁.多发性肌炎/皮肌炎的神经肌肉活检术病理诊断[J].中国现代药物应用,2011,5(24):44-45. 被引量:3
二级参考文献33
-
1顾卫琼,孙首悦,陈钦达,赵咏桔,宁光.成人糖原累积症一例[J].中华内科杂志,2004,43(9):706-707. 被引量:4
-
2陈琳,郭玉璞,任海涛,赵燕环,关鸿志,管宇宙,彭斌,刘大为.少年起病的Ⅱ型糖原累积病五例临床病理研究[J].中华神经科杂志,2005,38(1):51-54. 被引量:16
-
3袁云,陈清棠.多发性肌炎的周围神经改变[J].中华神经精神科杂志,1993,26(1):35-37. 被引量:11
-
4李越星,吴丽娟,陈清棠,贾钟,张秋荣,左越焕.多发性肌炎患者周围神经中免疫球蛋白及补体的沉积[J].中华神经科杂志,1996,29(2):104-106. 被引量:17
-
5Fukuda T, Ewan L, Bauer M, et al. Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol, 2006, 59 : 700-708.
-
6Raben N, Baum R, Schreiner C, et al. Genetic suppression of autophagy dramatically enhances enzyme replacement therapy in murine Pompe disease. Clin Ther, 2010, 32(Suppl B) : S62.
-
7Kishnani PS, Hwu WL, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantileonset Pompe disease. J Pediatr, 2006, 148 : 671-676.
-
8Laforet P, Nicolino M, Eymard PB, et al. Juvenile and adult onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology, 2000, 55 : 1122-1128.
-
9Laforet P, Petiot P, Nieolino M, et al. Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology, 2008,70 : 2063-2066.
-
10Katzin LW, Amato AA. Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy. J Clin Neuromuscul Dis, 2008,9: 421-431.
共引文献12
-
1朱向阳.肌糖原累积病误诊一例[J].临床误诊误治,2009,22(9):26-26.
-
2赵玉英,赵冰,杨霞峰,孙义华,李伟,焉传祝.伴脑血管病的晚发型Pompe病一家系临床、病理和分子遗传学特点[J].中华神经科杂志,2012,45(8):561-565. 被引量:7
-
3张洪明,赵云峰.反复发生呼吸衰竭、并发左侧侧脑室出血的Ⅱ型糖原累积病1例[J].中华肺部疾病杂志(电子版),2013,6(6):74-75.
-
4许启锋,邵明,谭红愉,刘花琴,沈粤春.结缔组织相关性间质性肺炎的神经电生理特征[J].现代中西医结合杂志,2014,23(36):4050-4052. 被引量:1
-
5无.中国肌病型糖原累积病诊治指南[J].中华神经科杂志,2016,49(1):8-16. 被引量:23
-
6胡炳彦,王金凤,高振辉.多发性肌炎/皮肌炎的现状研究[J].中外医疗,2017,36(1):195-198. 被引量:14
-
7赵慧,张晓英,魏荣,王晨,温鸿雁.皮肌炎合并Ⅱ型糖原贮积症一例[J].中华内科杂志,2017,56(6):438-440.
-
8徐娜,黄晓明,方卫纲,张昀,邱正庆,曾学军.青少年痛风的罕见原因——糖原累积病Ⅰa型临床研究[J].中华内科杂志,2018,57(4):264-269. 被引量:15
-
9牛丰南,常蕾蕾,黎琪,陈骏,刘卓,赵燕,徐运.糖原累积病的临床电生理、骨骼肌和肝脏病理及基因研究[J].临床神经病学杂志,2020,33(2):91-97. 被引量:2
-
10孙瑜,宋学琴.特发性炎性肌病的临床研究进展[J].临床荟萃,2022,37(1):81-86. 被引量:5
同被引文献11
-
1芮小江,田丁军.糖原累积症误诊为多发性肌炎一例[J].临床误诊误治,2006,19(2):17-17. 被引量:4
-
2Hasan zen.Glycogen storage diseases: New perspectives[J].World Journal of Gastroenterology,2007,13(18):2541-2553. 被引量:35
-
3Dasouki M, Jawdat O, Almadhoun O, et al. Pompe disease: literature review and case series[J]. Neurol Clin, 2014, 32(3): 751-776.
-
4Remiche G, Ronchi D, Magri F, et al. Extended phenotype description and new molecular findings in late onset glycogen storage disease type Ⅱ : a northern Italy population study and re- view of the literature[J]. J Neurol, 2014, 261(1): 83-97.
-
5Desnuelle C, Salviati L. Challenges in diagnosis and treatment of late-onset Pompe disease [J]. Curr Opin Neurol, 2011, 24(5): 443-448.
-
6Korpela MP, Paetau A, Lfberg MI, et al. A novel mutation of the GAA gene in a Finnish late-onset Pompe disease pa- tient: clinical phenotype and follow-up with enzyme replace- ment therapy[J]. Muscle Nerve, 2009, 40(1): 143-148.
-
7Chien YH, Lee NC, Huang HJ, et al. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening[J]. J Pediatr, 2011, 158(6): 1023-1027.
-
8Schiiller A, Wenninger S, Strigl-Pill N, et al. Toward decon- structing the phenotype of late-onset Pompe disease[J]. Am J Med Genet C Semin Med Genet, 2012, 160C (1): 80-88.
-
9Koul R, A1-Yarubi S, A1-Kindy H, et al. Rigid spinal mus- cular dystrophy and rigid spine syndrome: report of 7 children[J]. J Child Neurol, 2014, 29(11): 1436-1440.
-
10Laforet P, Doppler V, Caillaud C, et al. Rigid spine syndrome revealing late-onset Pompe disease[J]. Neuromuscul Disord. 2010, 20(2): 128-130.
引证文献2
-
1黄志祥,廖冰,曾昭球,李天旺.糖原贮积症Ⅱ型伴强直脊柱综合征一例[J].中华风湿病学杂志,2016,20(6):411-412.
-
2赵慧,张晓英,魏荣,王晨,温鸿雁.皮肌炎合并Ⅱ型糖原贮积症一例[J].中华内科杂志,2017,56(6):438-440.
-
1张莉芸,李小峰,王来远,魏华,王彩虹,王晓霞,许珂.多发性肌炎、皮肌炎误诊为呼吸系统疾病18例临床分析[J].山西临床医药,2002,11(5):367-369. 被引量:3
-
2李大伟,陆天飞,夏强.婴幼儿活体肝移植胆道并发症的诊断及处理[J].器官移植,2014,5(4):254-256.
-
3侯建忠,高捷,王婷多.彩超诊断肾癌并下腔静脉巨大癌栓1例[J].临床超声医学杂志,2006,8(1):62-62.
-
4冷狂风,卢小华,吴兴龙.肾错构瘤自发性肾破裂1例误诊分析[J].疑难病杂志,2009,8(3):181-181. 被引量:1
-
5孙颖,王松岚,王海涛,吴华.Kimura病伴发肾病综合征1例报告[J].北京医学,2011,33(2):180-181. 被引量:2
-
6上原灯纪子,周蕾,巩路.以心肌损害为首发表现的多发性肌炎一例[J].天津医药,2006,34(4):235-235.
-
7陈瑞林,陶怡.多发性肌炎/皮肌炎134例临床分析[J].广州医学院学报,2006,34(2):29-33. 被引量:8
-
8王宏,王艳,刘晓宁,李海燕,李梅.急进性肾小球肾炎二例临床分析[J].临床肾脏病杂志,2010(12):540-540.
-
9徐丹华.皮肌炎16例的临床护理[J].中国误诊学杂志,2011,11(17):4195-4195.
-
10何永财,宋亭,董天发,黄建威.左股骨真菌性骨髓炎一例[J].中华放射学杂志,2016,50(1):73-74. 被引量:1