脾Gaucher病
摘要
1882年Philippe Gaucher的博士论文中第一次描述了Gaucher病(Gaucher's Sdisease),他认为脾中有增大的细胞浸润可能是一种新生物。1965年国立卫生研究院的Brady研究小组在生物化学的基础上对这个疾病作了进一步的研究。20世纪80年代后期在分子水平上对该病进一步研究发现葡萄糖脑苷脂酶基因发生突变。Gaucher病是一种常染色体隐性遗传性疾病,又称葡萄糖神经酞胺贮积病。
出处
《菏泽医学专科学校学报》
2008年第4期86-88,共3页
Journal of Heze Medical College
参考文献11
-
1Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides, Ⅱ: evidence of art enzymatic deficiency in Gaucher's disease[J]. Biochem. Biophys. Res. Commun, 1965, 18:221-225.
-
2Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modem management [J]. Br J Haerntol. 2005, 129 (2) : 178 - 188.
-
3Beutler E, Nguyen N J, Henneberger MW, et al. Gaucher disease: gene frequencies in the Ashkenazi Jewish population[J]. Am J Hum Genet. 1993,52(1):85-88.
-
4Hoffbrand AV, Pettit JE, eds. Lysosomal storage diseases. Color Atlas of Clinical Hematology[M]. 3rd ed. In: St Louis, Mo, Mosby,2000,303 - 307.
-
5石志鸿,张本恕.戈谢病与帕金森病研究进展[J].医学综述,2008,14(4):583-585. 被引量:3
-
6Chen M, Wang J. Gaucher disease: review of the literature[J]. Arch Pathol Lab Med,2008,132(5) :851 - 853.
-
7Elstein D, Abrahamov A, Hadas Halpern I, et al. Gaucher' s disease[J]. Lancet,2001,358(9278) :324-327.
-
8Aerts JM, Hollak CE. Plasma and metabolic abnormalities in Gaucher' s disease[J]. Baillieres Clin Haematol. 1997,10 (4) :691-709.
-
9Terk MR, Dardashti S, Liebman HA. Bone marrow response in treated patients with Gaucher disease: evaluation by T1 - weighted magnetic resonance images and correlation with reduction in liver and spleen volume [ J ]. Skeletal Radiol, 2000, 29 ( 10 ) : 563 571.
-
10武忠弼 杨光华主编.中华外科病理学[M].北京:人民卫生出版社,2002.646.
二级参考文献16
-
1Tayebi N,Walker J,Stubblefield B,et al.Gaucher disease with parkinsonian manifestations:dose glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?[J].Mol Genet Metab,2003,79(2):104-109.
-
2Bembi B,Zambito Marsala S,Sidransky E,et al.Gaucher's disease with Parkinson's disease:clinical and pathological aspects[J].Neurology,2003,61(1):99-101.
-
3Itokawa K,Tamura N,Kawai N,et al.Parkinsomsm in type 1 Gaucher's disease[J].Intern Med,2006,45(20):1165-1167.
-
4Goker-Alpan O,Schiffmann R,LaMarca ME,et al.Parkinsonism among Gaucher disease carriers[J].J Med Genet,2004,41(12):937-940.
-
5Lwin A,Orvisky E,Goker-Alpan O,et al.Glucocerebrosidase mutations in subjects with parkinsonism[J].Mol Genet Metab,2004,81(1):70-73.
-
6Aharon-Peretz J,badarny S,Rosenbaum H,et al.Mutations in the glucocerebrosidase gene and Parkinson disease:phenotype-genotype correlation[J].Neurology,2005,65(9):1460-1461.
-
7clark LN,Nicolai A,Afridi S,et al.Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of jewish ethnicity[J].Mov Disord,2005,20(1):100-103.
-
8Sato C,Morgan A,Lang AE,et al.Analysis of the glucocerebrosidase gene in Parkinson's disease[J].Mov Disord,2005,20(3):367-370.
-
9Eblan MJ, Nguyen J, Ziegler SG, et al. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela [ J]. Mov Disord, 2006,21 (2) : 282-283.
-
10Wong K, Sidransky E, Verma A, et al. Neuropathology provides clues to the pathophysiology of Gaucher disease[J]. Mol Genet Metab,2004,82 (3) : 192-207.
共引文献547
-
1万红萍,衷筱琴,俞薇薇.消化道神经内分泌癌10例临床病理分析[J].江西医学院学报,2004,44(3):23-25. 被引量:6
-
2成克伦.脑原发性恶性淋巴瘤临床病理分析[J].肿瘤研究与临床,2004,16(3):163-165. 被引量:7
-
3王康敏,孙润芹,黄莺,靳耀锋.婴幼儿皮肤血管瘤发生发展与细胞增殖和凋亡的研究[J].中国皮肤性病学杂志,2004,18(8):453-455. 被引量:3
-
4朱秀益,陈新龙,何平生.右肺上叶肺母细胞瘤一例[J].放射学实践,2004,19(8):602-602.
-
5朱李华,王长安,党小雨,郝树远.子宫颈透明细胞癌5例临床病理分析[J].肿瘤研究与临床,2004,16(5):333-335. 被引量:3
-
6向之明,许向东.腹膜后囊性淋巴管瘤的CT诊断[J].实用放射学杂志,2004,20(11):1006-1006. 被引量:2
-
7李如迅,时高峰,李彩英,许茜,王亚宁,田志辉,张金香.CT引导下肝穿刺在不典型肝癌诊断中的应用[J].实用放射学杂志,2005,21(1):106-107. 被引量:2
-
8程玲,王庭.先天性胸腹裂孔疝并指(趾)畸形、肝肾发育异常尸检1例[J].实用儿科临床杂志,2005,20(2):146-146.
-
9娄丽,马玉香,王克,李吉昌,王刚.超声诊断乳腺肿块[J].中国医学影像技术,2004,20(12):1812-1814. 被引量:27
-
10贾杭若,金夏祥,王爱忠,张荣春.伴大量嗜酸性粒细胞浸润的结肠T细胞性淋巴瘤1例[J].诊断病理学杂志,2005,12(1):75-76. 被引量:2
-
1商琰红,臧爱民,杨华,周莹,李小芳,魏亚宁,薛桂花.脾肿瘤13例诊治体会[J].现代中西医结合杂志,2008,17(30):4764-4765.
-
2吴晓艳,董磊.超声诊断淋巴瘤致脾脏病变(2例)[J].上海医学影像,1997,6(3):136-136.
-
3吴恩福,郑祥武,李建策,胡之同.脾脏占位性病变的CT诊断[J].中国医学计算机成像杂志,2000,6(3):180-183. 被引量:4
-
4潘联军.脾脏肿瘤的螺旋CT诊断及临床分析[J].世界最新医学信息文摘,2014,14(4).
-
5何银,荣文霞.脾脏占位性病变的CT诊断[J].上海医学影像,2004,13(3):218-220.
-
6王洁,吴茅,林慧君.多发性骨髓瘤伴类戈谢细胞明显增多一例[J].浙江检验医学,2013,0(1):38-39.
-
7陈永亮,黄志强,冯玉泉,周宁新,顾万清,张文智,黄晓强,刘荣.脾脏肿瘤31例临床分析[J].中华肿瘤杂志,2001,23(6):510-512. 被引量:16
-
8张景春,赵永福.解剖脾门法脾部分切除术治疗脾脏病变26例[J].中华消化外科杂志,2008,7(6):457-457. 被引量:1
-
9姜民慧.单纯疱疹病毒胸苷激酶基因转染联合药物对卵巢癌细胞的杀伤效应[J].中华医学信息导报,1997,0(17):18-18.
-
10治疗肾癌科学家又有新方法[J].中国科教创新导刊,2000,0(10):10-10.