H deficiency in two brothers with atypical dense intramembranous deposit disease.
H deficiency in two brothers with atypical dense intramembranous deposit disease.
复制标题
两兄弟患有非典型致密膜内沉积病，H 缺乏。
作者：
M. Lévy;L. Halbwachs‐Mecarelli;M. Gubler;G. Kohout;A. Bensenouci;P. Niaudet;G. Hauptmann;P. Lesavre
我们报告一个H缺乏症在两个阿尔及利亚兄弟谁有早发性肾小球肾炎。此外，其中一人患有严重的肺部感染。CH50和AP50检测不到，H、C3和B水平低（低于正常水平的10%）。I和经典通路组分，包括C4-bp均正常。CR1均存在于两例患者的红细胞中。未检测到肾病因子或其他循环替代途径激活剂。父母是表亲，健康的兄弟姐妹有一半正常水平的H.这些发现支持常染色体隐性遗传H缺陷。虽然电子显微镜下两例患者的肾脏活检都是典型的致密膜内沉积病，但免疫荧光显微镜下显示系膜内和毛细血管壁内有大量颗粒状的C3沉积物。替代途径激活剂可能与致密沉积有关，可能允许形成膜相关的C3/C5转化酶，在缺乏H的情况下异常稳定，因为两例患者的C5、C6、C7、C8和C9水平均下降。这一观察结果可能为肾病因子、替代途径激活和致密膜内沉积病之间的关系提供了一个有趣的线索。
We report an H deficiency in two Algerian brothers who had early-onset glomerulonephritis. In addition, one suffered from serious lung infections. The H deficiency was defined by undetectable CH50 and AP50, and low levels of H, C3 and B (less than 10% of normal levels). I and classical pathway components, including C4-bp were normal. CR1 was present on both patients' erythrocytes. No nephritic factor or other circulating alternative pathway activator was detected. The parents, who are first cousins, and a healthy brother and sister had half-normal levels of H. These findings favor an autosomal recessive transmission of the H defect. Although by electron microscopy renal biopsies from both patients were typical for dense intramembranous deposit disease, immunofluorescence microscopy showed an atypical pattern with abundant granular C3 deposits within the mesangium and along the capillary walls. Alternative pathway activators, possibly related to dense deposits, may allow the formation of membrane-associated C3/C5 convertases, unusually stable in the absence of H, since C5, C6, C7, C8 and C9 levels were decreased in both patients. This observation may represent an interesting clue to the relationship between nephritic factor, alternative pathway activation, and dense intramembranous deposit disease.
补体系统中遗传决定的变异：与疾病的关系。
DOI：
10.1016/s0022-3476(84)80110-9
发表时间：
1984
期刊：
The Journal of pediatrics
影响因子：
--
作者：
McLean,RH;Winkelstein,JA
通讯作者：
Winkelstein,JA
膜增生性肾小球肾炎的遗传性补体成分缺乏。
影响因子：
19.6
作者：
Coleman,TH;Forristal,J;Kosaka,T;West,CD
通讯作者：
West,CD