Andersen-Tawil综合征的研究
摘要
Andersen-Tawil综合征是种罕见病,临床上表现为心律失常、周期性麻痹及发育异常,由于缺乏对此病的认识,极易被漏诊和误诊。大部分患者是由于KCNJ2突变导致Kir2.1离子通道改变的遗传性疾病,可使钾离子内向整流减少,从而导致心律失常和周期性麻痹。该文就Andersen-Tawil综合征病因、临床表现及治疗作一综述。
出处
《国际心血管病杂志》
2010年第1期27-30,共4页
International Journal of Cardiovascular Disease
参考文献19
-
1TawiI R, Ptacek LJ, Pavlakis SG, et al. Andersen's syn drome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features EJ]. Ann Neurol, 1994, 35(3):326-330.
-
2Piaster NM, Tawil R, Tristani Firouzi M, et al. Mutations in Kir2. 1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome[J]. Cell, 2001, 105 (4) :511-519.
-
3Donaldson MR, Jensen JI., Tristani-Firouzi M, et al. PIP2 binding residues of Kir2. 1 are common targets of mutations causing Andersen syndrome[J].Neurology, 2003, 60(11): 1811-1816.
-
4Ptacek LJ, George AL Jr, Griggs RC, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis[J]. Cell, 1991,67(5):1021-1027.
-
5Zhang L, Benson DW, Tristani Firouzi M, et al. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 rnutations: characteristic T-U-wave patterns predict the KCNJ2 genotype[J]. Circulation, 2005, 111 (21) :2720-2726.
-
6Bendahhou S, Donaldson MR, Plaster NM, et al. Defective potassium channel Kit 2.1 trafficking underlies Andersen Tawil syndrome [J].J Biol Chem, 2003, 278(51): 51779-51785.
-
7Tester DJ, Arya P, Will M, et al. Genotypic heterogeneity and phenotypie mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular taehycardia genetic testing[J]. Heart Rhythm,2006, 3(7):800-805.
-
8Morita H, Zipes DP, Morita ST, et al. Mechanism of U wave and polymorphic ventricular tachycardia in a canine tissue model of Andersen-Tawil syndrome[J]. Cardiovasc Res, 2007,75(3):510- 518.
-
9Schoonderwoerd BA, Wiesfeld AC, Wilde AA, et al. A ramily with Andersen-Tawil syndrome and dilated cardiomyopathy [J]. Heart Rhythm, 2006,3(11): 1346-1350.
-
10Tristani-Firouzi M, Jensen JL, Donaldson MR, et al. Functional and clinical characterization of KCNJ2 mutations associated with LOT7 (Andersen syndrome) [J].J Clin Invest, 2002,110(3) :381 -388.
-
1岳炫烨,陈浩,张尊胜,孙亚云,崔桂云,沈霞.Andersen－Tawil综合征一例[J].中华神经科杂志,2012,45(11):839-839. 被引量：1
-
2叶艳,姚渝,田浩明.甲状腺毒症性周期性麻痹与内向整流型钾离子通道亚家族J成员18及成员2基因的关系[J].中国全科医学,2016,19(27):3380-3384. 被引量：1
-
3吕斌.一顿美餐后 小吴缘何站不起来[J].美食,2006(1):52-52.
-
4白静,李毅,刘凤君,梁为,石昕,陈静.Andersen-Tawil综合征的临床特点(附1例报告)[J].临床神经病学杂志,2016,29(2):137-139. 被引量：2
-
5刘晓黎,黄啸君,沈隽逸,王田,汤荟冬,曹立.原发性低钾型周期性麻痹致病基因筛查及其临床特征分析[J].上海交通大学学报（医学版）,2016,36(1):70-75. 被引量：7
-
6栾莹(综述),高丽(审校).星形胶质在癫痫中的生物学机制研究进展[J].国际儿科学杂志,2012,39(4):369-371. 被引量：1
-
7唐山市中医医院-神经内科[J].河北中医,2008,30(10).
-
8王晓丹,刘雁.脊髓损伤后疼痛和感觉异常的护理[J].中国现代药物应用,2011,5(15):111-111. 被引量：1
-
9金晓燕,王公英.老年人自发性气胸的临床表现及治疗体会[J].老年医学与保健,1996,2(1):42-42.
-
10刘换新,吴晓霞,张燕,郭琳琅.钾离子通道蛋白Kir2.1/KCNJ2及多药耐药蛋白MRP1/ABCC1在小细胞肺癌中的表达及相关性[J].中国病理生理杂志,2013,29(11):1940-1945. 被引量：3
