摘要
Fabry病属于溶酶体蓄积病，是一种罕见的X连锁遗传性疾病，系由于先天性溶酶体α-半乳糖苷酶A活性缺陷导致鞘糖脂代谢异常，进而在体内多系统包括肾脏、皮肤、角膜及心脏等部位的异常堆积致病。Fabry病属单基因遗传病，致病基因GLA基因位于Xq22，编码α-半乳糖苷酶A。以往调查显示在男性新生儿中发病率约为1／40000。
出处
《中华肾脏病杂志》
CAS
CSCD
北大核心
2007年第6期408-410,共3页
Chinese Journal of Nephrology
参考文献22
-
1Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet, 2006, 79:31-40.
-
2Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest, 2004, 34:236-242.
-
3Tanaka M, Ohashi T, Kobayashi M, et al. Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Clin Nephrol, 2005, 64:251-257.
-
4Bekri S, Enica A, Ghafari T, et al. Fabry disease in patients with end-stage renal failure: the potential benefits of screening. Nephron Clin Pract, 2005, 101:c33-c38.
-
5Linthorst GE, Vedder AC, Aerts JM, et al. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta, 2005, 353:201- 203.
-
6Weidemann F, Breunig F, Beer M, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation, 2003, 108:1299-1301.
-
7Hoffmann B, Reinhardt D, Koletzko B. Effect of enzymereplacement therapy on gastrointestinal symptoms in Fabry disease. Eur J Gastroenterol Hepatol, 2004, 16:1067-1069.
-
8Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet, 2004, 75:65-74.
-
9Guffon N, Fouilhoux A. Clinical benefit in Fabry patients given enzyme replacement therapy-a case series. J Inherit Metab Dis, 2004, 27:221-227.
-
10Thurberg BL, Rennke H, Colvin RB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int, 2002, 62:1933-1946.
同被引文献20
-
1张苏华,尹广.Fabry病及其酶替代疗法[J].肾脏病与透析肾移植杂志,2004,13(6):560-565. 被引量：9
-
2龚伟,胡伟新.Fabry病误诊为局灶节段性肾小球硬化[J].肾脏病与透析肾移植杂志,2004,13(6):584-587. 被引量：5
-
3张静,刘彦仿,刘健,程虹,王汉民,崔继红,任丽君.Fabry肾病临床病理观察[J].诊断病理学杂志,2005,12(4):263-266. 被引量：8
-
4李文歌.Fabry病的肾脏病变及诊治进展[J].中国医师进修杂志（内科版）,2006,29(6):8-10. 被引量：4
-
5曲利娟,刘庆宏,郑智勇,季天海,余英豪,曾玲.Fabry病肾病3例报告并文献复习[J].中国误诊学杂志,2007,7(26):6220-6223. 被引量：3
-
6Peters FP,Vermeulen A,Kho TL. Anderson-Fabry's disease:alph-galactosidase deficiency[J].{H}LANCET,2001,(9250):138-140.
-
7Germain DP. Fabry disease[J].{H}ORPHANET JOURNAL OF RARE DISEASES,2010,(05):30.
-
8Lv YL,Wang WM,Pan XX. A successful screening for Fabry disease in a Chinese dialysis patient population[J].{H}CLINICAL GENETICS,2009,(02):219-221.
-
9Monserrat L,Gimeno-Blanes JR,Mar NF. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy[J].{H}Journal of the America College of Cardiology,2007,(25):2399-2403.
-
10Sakuraba H,Oshima A,Fukuhara Y. Identification of poin mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease[J].{H}American Journal of Hunan Genetics,1990,(05):784-789.
引证文献3
-
1张莹,肖笑,熊轩,陈敏,胡建广,刘岩.以肾脏表现为首发症状的Fabry病1例报告及文献复习[J].中国中西医结合肾病杂志,2012,13(3):248-249. 被引量：4
-
2张红霞,邸述,卢志远,刘运来.以肾脏表现为主要症状的Fabry病1例报道并文献复习[J].中国中西医结合肾病杂志,2013,14(12):1078-1080. 被引量：1
-
3蔡晓懿,邓会英,陈椰,谭梅,高霞.NEU1基因突变导致的肾唾液酸沉积症1例[J].中华肾脏病杂志,2023,39(9):712-715.
二级引证文献5
-
1邱占祥.泥河湾哺乳动物群与中国第四系下限[J].第四纪研究,2000,20(2):142-154. 被引量：62
-
2纪永松,王展鹏,杜凯阳,程岚,石智勇,刘洪亮,李瑞.Fabry病二例肾脏病理表现及文献复习[J].中华临床医师杂志（电子版）,2014,8(20):113-116. 被引量：2
-
3刘争辉,成晓萍,史健,田耘,毛加荣,袁二磊,程小红.以肾脏损害为主要症状的Fabry病1例报道并文献复习[J].中国中西医结合肾病杂志,2015,16(3):265-266.
-
4张均,熊加川,刘会芳,赵景宏.以肾脏表现为首发症状的Fabry病女性患者一例报告并文献复习[J].临床肾脏病杂志,2016,16(9):575-577.
-
5周焕焕.Fabry病一例及文献回顾[J].浙江中西医结合杂志,2021,31(3):250-252.
-
1祝立志.恙虫病肾损害51例临床分析[J].中国中西医结合肾病杂志,2002,3(2):110-110.
-
2朱昆.丙型肝炎病毒感染的肾脏表现[J].医师进修杂志,2001,24(8):51-53. 被引量：4
-
3金重华.丙型肝炎的肾脏表现[J].国外医学（消化系疾病分册）,2000,20(1):49-49.
-
4杨桂兰,冯学梅.类风湿性关节炎的肾脏表现（附58例报告）[J].吉林医学信息,1997,14(5):4-5.
-
5贾永存.儿童过敏性紫癜85例临床分析[J].青海医药杂志,2011,41(6):33-34.
-
6赵宏丽,李桂珍,赵俊芳,张彤.系统性红斑狼疮患者4种尿微量蛋白检测结果分析[J].中国皮肤性病学杂志,2012,26(2):170-172. 被引量：7
-
7王彩花,钱可大,唐训球.急性胰腺炎的肾损害49例[J].胃肠病学,1999,4(1):51-51. 被引量：3
-
8王苡音,邹盛淮,张庆怡.急性胰腺炎的肾损害40例临床分析[J].中国实用内科杂志,1996,16(1):31-32. 被引量：2
-
9张露,孙伟,盛梅笑,江燕,许陵冬,傅奕.Fabry病合并Ⅱ型狼疮性肾炎1例并文献复习[J].中国中西医结合肾病杂志,2014,15(9):826-827. 被引量：1
-
10尹广,刘正钊,程震,陈惠萍,曾彩虹,刘志红.Fabry病合并IgA肾病临床病理特点分析[J].中华实用诊断与治疗杂志,2014,28(5):458-459. 被引量：2
