摘要
目的探讨脂蛋白肾病(lipoprotein glomerulopathy,LPG)的临床病理特点,进行载脂蛋白E(apolipoprotein E,apoE)基因突变检测。方法分析10例经肾活检证实为LPG患者的临床和病理特点,对LPG患者及部分亲属进行apoE基因编码区序列测序分析。结果 10例患者均以浮肿和蛋白尿起病,均表现明显血脂紊乱,7例表现为肾病综合征,7例患者出现镜下血尿。全血DNA测序显示1例患者携带apoE基因DNA编码区C606T杂合子突变,致相应的氨基酸改变Arg158Cys;1例患者的父亲及1例患者携带apoE基因DNA编码区T468C杂合子突变,致氨基酸改变Cys112Arg。结论①本组LPG患者以青年男性居多,肾病综合征发病率高,肾脏形态偏大,血脂紊乱以总胆固醇和低密度脂蛋白增高明显。②测序结果示LPG患者少数存在编码区突变,大部分未发现apoE基因编码区突变,提示LPG发病可能存在其他遗传突变。
Objective Several mutations in apolipoprotein E gene may contribute to the pathogenesis of lipoprotein glomeru- lopathy（LPG）. In this article ,we summarized the clinical features and reported the mutations of apoE gene in patients with LPG. Meth-ods Ten LPG patients and three relatives were involved in this study. The clinical and laboratory parameters of the patients were re-viewed. Coding sequences of apoE gene were sequenced after PCR amplification. Results All patients were beginning with edema and abnormal urine analysis with significant dyslipidemia. Seven patients had microscopic hematuria and seven eases bad nephrotic syn-drome. A point mutation in exon 4, C606T （ Arg158 Cys ）, was found in one case （ case No. 3 ） while other point mutation in exon 4, T468 C （Cys112Arg）, was found in another case （case No. 7 ） and the father of case No. 8. Conclusion In our study, there are more young male patients, high incidence of nephrotic syndrome and dyslipidemia and more large size of the kidneys. The coding region mutation of ApoE gene was only identified in two of the ten LPG patients. The results suggest that other different genetic backgrounds could be in-volved in the pathogenesis of LPG.
出处
《实用医院临床杂志》
2013年第6期57-59,共3页
Practical Journal of Clinical Medicine
关键词
脂蛋白肾病
临床表现
载脂蛋白E
基因突变
Lipoprotein glomerulopathy
Clinical manifestations
Apolipoprotein E
Gene mutation
