以血尿初诊的弥漫性体部血管角皮瘤1例

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摘要弥漫性体部血管角皮瘤又称Fabry病，是因α-半乳糖苷酶缺陷导致糖脂在组织内沉积而引起的一种代谢性疾病，门诊遇见1例报道如下。

作者桑红郑稀邓德权周文泉高建平吴波周晓军

机构地区南京军区南京总医院

出处《中国麻风皮肤病杂志》 2011年第9期646-647,共2页 China Journal of Leprosy and Skin Diseases

关键词血管角皮瘤弥漫性初诊血尿 FABRY病代谢性疾病半乳糖苷酶缺陷

参考文献5

1Shabbeer J,Yasuda M,Luca E,et al.Fabry disease:45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.Mol Genet Metab 2002;76(1):23-30.
2Poorthuis BJ,Weves RA,Kleijer WJ,et al.The frequency of lysosomal storage diseases in The Netherlands.Hum Genet 1999;105:151-156.
3Linthorst GE,De Rie MA,J jiam KH,et al.Misdiagnosis of Fabry disease:importance of biochemical confirmation of clinical or pathological suspicion.Br J Dermatol 2004;150:575-577.
4Greve B,Raulin C.Prospective study of port wine stain treat-ment with dye laser.Comparison of two wavelengths(585 nm vs.595 nm)and two pulse durations(0.5 milliseconds vs.20 milliseconds).Lasers Surg Med 2004;34(2):168-173.
5Schiffmann R,Kopp J,Austin H,et al.Efficacy and safety of enzyme replacement therapy in Fabry disease demonstrated by a double-blind placebo-controllde trial[abstract].Am J Hum Genet 2000;67(2):38.

中国麻风皮肤病杂志

2011年第9期

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