Ⅱ型膜增殖性肾小球肾炎分子遗传学研究进展  

Progress on molecular genetics in membranoproliferative glomerulonephritis type Ⅱ

作　　者：高力敏[1] 石岩[1] 

机构地区：[1]山西医科大学第一医院儿科,太原030001

出　　处：《国际免疫学杂志》2011年第3期217-220,共4页International Journal of Immunology

摘　　要：Ⅱ型膜增殖性肾小球肾炎是一种罕见的有遗传倾向的肾脏疾病，易感基因主要是补体替代途径活化的关键调控基因一补体因子H。迄今共发现了7例患者含有补体因子H的突变，均为纯合及复合杂合突变，遗传方式为常染色体隐性遗传。在分子遗传学上它与非典型溶血尿毒综合征、年龄相关的黄斑退行性病变和C3肾小球肾炎有着密切的联系。Membranoproliferative glomerulonephritis type Ⅱ （MPGN-Ⅱ ）has shown recently to be a rare renal disease of genetic predisposition. Its predisposition gene is complement factor H（ CFH）, which is the regulatory gene of complement alternative pathway. So far, there are seven cases which have been reported with CFH mutations, and all the mutations are homozygous, compound heterozygous and autosomal recessive inheritance has been reported. MPGN-Ⅱ is related with atypical hemolytic uremic syndrome／ age-related macular degeneration and glomerulonephritis C3 from the perspective of molecular genetics.

关 键 词：Ⅱ型膜增殖性肾小球肾炎 突变 补体因子H 

分 类 号：R692[医药卫生—泌尿科学]