戈谢病1例并文献复习
摘要
戈谢病(Gaucherdisease)临床较少见,国内报道不多,戈谢病(Gaucherdisease发音“go—shay”,旧称高雪病)是一种由基因突变引起的遗传性疾病。戈谢病(是溶酶体糖脂贮积症中较常见的一种,为常染色体隐性遗传心。。法国皮肤科医生GaucherP1882年首先报道,
出处
《中国实用医刊》
2012年第18期116-117,共2页
Chinese Journal of Practical Medicine
参考文献13
-
1Jmoudiak M,Futerman AH. Gaucher disease:pathological mechanisms and modem management[J].British Journal of Haematology,2005,(02):178-188.
-
2Stirnemann J,Caubel I,Kettaneh A. Epidemiologic,clinical,biological and therapeutic aspects of Gaucher disease[J].Presse Medicale,2003,(11):503-511.
-
3Weinreb NJ,Charrow J,Andersson HC. Effectiveness of enzyme replacement therapy in 1 028 patients with type 1 Gaucher disease after 2 to 5 years of treatment:a report from the Gaucher Registry[J].American Journal of Medicine,2002,(02):112-119.
-
4Goldblatt J,Szer J,Fletcher JM. Enzyme replacement therapy for Gaucher disease in Australia[J].Internal Medicine Journal,2005,(03):156-161.
-
5Rozé B,Lambert Y,Potard M. Voluminous nodular splenomegaly in Gaucher disease:A case report[J].Revue De Medecine Interne,2009,(10):904-906.
-
6Pastores GM,Barnett NL,Kolodny EH. An open-ladel,noncomparative study of miglustat in type Ⅰ Gaucher disease:efficacy and tolerability over 24 months of treatment[J].Clinical Therapeutics,2005,(08):1215-1227.
-
7Mankin HJ,Rosenthal DI,Xavier R. Gaucher disease new approaches to an ancient disease[J].Journal of Bone and Joint Surgery-American Volume,2001,(05):748-762.
-
8施惠平,张为民,臧晏,蔡逸文.中国10例戈谢病基因型与临床表型的相关性[J].中华儿科杂志,2001,39(3):131-133. 被引量:8
-
9浦权;杨梅如.血液病骨髓诊断病理学[M]北京:科学出版社,2002376.
-
10李金,汪海源,邵华,于晓会,张绵华.戈谢病的研究进展[J].国外医学(儿科学分册),2002,29(5):274-276. 被引量:9
二级参考文献45
-
1肖文慧,臧晏,施惠平.酶制剂Cerezyme治疗高雪氏病效果观察[J].中国小儿血液,2004,9(5):197-200. 被引量:3
-
2Stirnemann J, Caubel I, Kettaneh A, et al. Epidemiologic, clinical,biological and therapeutic aspects of Gaucher disease[ J]. Presse Med ,2003 ,32 ( 11 ) : 503 - 511.
-
3Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management [ J ]. Br J Haematol, 2005,129 (2) :175 - 155.
-
4Mankin H J, Rosenthal DI, Xavier R. Gaucher disease. New approaches to an ancient disease[ J]. J Bone Joint Surg Am,2001, 83 - A(5) :748 -762.
-
5Sidransky E, Tayebi N, Ginns EJ. Diagnosing Gaucher disease [ J ]. Clin Pediatr, 1995,34:365 - 370.
-
6Weinreb N J, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment : a report from the Gaueher Registry[J]. Am J Med,2002,113(2) :112 - 119.
-
7Poll LW, Maas M, Terk MR, et al. Response of Gaucher bone disease to enzyme replacement therapy [ J ]. Br J Radiol, 2002,75 (suppl) 1:25 - 36.
-
8Yen CC, Chiou TJ , Lin CY, et al. Allogeneic bone marrow transplantation for Gaucher isease-a case report[ J]. Zhonghua Yi Xue Za Zhi,1997,59(6) :372 -376.
-
9Goldblatt J, Szer J, Fletcher JM, et al. Enzyme replacement therapy for Gaucher disease in a ustralia[J]. Intern Med J ,2005,35 (3):156-161.
-
10Pastores GM, Barnett NL, Kolodny EH. An open-ladel, noncomparative study of miglustat in type Ⅰ Gaucher disease:efficacy and to lerability over 24 month s of treatment [ J ]. Clin Ther, 2005,27(8) : 1215 - 1227.
共引文献49
-
1刘敏,蔡江义,马春林,原荣,李军,燕玲青.脾高雪氏病误诊为血管肉瘤1例并文献复习[J].现代肿瘤医学,2005,13(2):223-224. 被引量:1
-
2陆进,查庆桂,苗忠,周广政,王灵犀.戈谢病1例报告并文献复习[J].中国误诊学杂志,2006,6(2):206-208. 被引量:3
-
3靳华,朱清静,何生松,李瀚.腹胀、纳差、乏力、贫血、肝脾肿大[J].中西医结合肝病杂志,2006,16(5):300-302.
-
4应艳琴,罗小平.儿童内分泌遗传代谢疾病的临床研究进展[J].中国实用儿科杂志,2007,22(5):324-326. 被引量:3
-
5叶新青,徐少杰,孙洪鸣.戈谢病合并脾脏海绵状血管瘤1例结合文献复习报告[J].浙江临床医学,2007,9(8):1121-1121. 被引量:1
-
6田军,刘雯.戈谢病一例[J].中华放射学杂志,2008,42(9):1006-1006. 被引量:2
-
7郝慧瑶,毛春霞,林凤茹,郭晓楠,任金海,张静楠,乔淑凯.戈谢病1例[J].临床荟萃,2009,24(18):1639-1640.
-
8张宁宁,曾津津.儿童戈谢病的影像学特点[J].中华医学杂志,2009,89(38):2665-2666. 被引量:1
-
9张永红.戈谢病的临床研究进展[J].中华医学杂志,2009,89(40):2879-2880. 被引量:8
-
10段彦龙,张永红.戈谢病研究进展[J].中华儿科杂志,2009,47(12):953-955. 被引量:2
-
1路毓康,路素珍.高雪病一例误诊分析[J].中国全科医学,2004,7(20):1516-1516.
-
2徐红,李枳.幼儿高雪氏病3例报告[J].湖北民族学院学报(医学版),1997,14(Z1):60-60.
-
3董明,杜娟.先天代谢性疾病合并病毒性脑炎2例分析[J].中国城乡企业卫生,2015,30(5):100-101.
-
4高晓红.小儿腹泻病并湿疹3例治疗体会[J].中国中西医结合儿科学,2004(6):354-354.
-
5周爱珍.川畸病13例临床分析[J].南通大学学报(医学版),2005,25(6):492-493. 被引量:2
-
6刘晓依,何欢,陈戟.儿童川崎病85例临床分析[J].中国皮肤性病学杂志,2015,29(11):1139-1141. 被引量:3
-
7季娟,李邻峰.湿疹诊疗指南推广项目会议纪要[J].中华皮肤科杂志,2011,44(5):335-335. 被引量:1
-
8周仲华.一位神经纤维瘤病病人的上腹痛[J].中华全科医师杂志,2006,5(4):237-238.
-
9《牛奶蛋白过敏诊断与相关理论的指导意见》要略[J].中华儿科杂志,2012,50(7):510-515. 被引量:10
-
10邬时民.谨防吃出“肠原性青紫”[J].医药世界,2000(4):13-13.