van Keulen C J, van den Akker E, van den Berg F G, Pals G, Rauwerda J A
Institute for CardioVascular Research, Vrije Universiteit, Amsterdam, The Netherlands.
Eur J Vasc Endovasc Surg. 2000 Oct;20(4):379-85. doi: 10.1053/ejvs.2000.1193.
type III collagen is responsible for the tensile strength of the aorta-wall. To determine if genetic defect in the type III collagen production is associated with familial clustering of AAA.
fifty-six patients with AAA and 82 first-degree family members participated. The medical and family histories were obtained. All these relatives were screened by ultrasound for AAA. In 58 relatives of 20 families, skin biopsies were taken for protein analysis to measure type III collagen production in cultured fibroblasts.
only one new AAA was detected in a brother of a patient. Four other relatives were already known with AAA. Three AAA patients had a type III collagen deficiency, but type III collagen was normal in all family members.
type III collagen deficiency does not appear to be an aetiological factor in the development of AAA.
Ⅲ型胶原蛋白负责主动脉壁的抗张强度。确定Ⅲ型胶原蛋白产生的基因缺陷是否与腹主动脉瘤的家族聚集性有关。
56例腹主动脉瘤患者和82名一级家庭成员参与。获取了医疗和家族病史。所有这些亲属均接受超声检查以筛查腹主动脉瘤。在20个家庭的58名亲属中，取皮肤活检进行蛋白质分析，以测量培养的成纤维细胞中Ⅲ型胶原蛋白的产生。
仅在一名患者的兄弟中检测到一例新的腹主动脉瘤。其他四名亲属已确诊患有腹主动脉瘤。三名腹主动脉瘤患者存在Ⅲ型胶原蛋白缺乏，但所有家庭成员的Ⅲ型胶原蛋白均正常。
Ⅲ型胶原蛋白缺乏似乎不是腹主动脉瘤发生的病因。
