Ollier M P, Hartmann L, Brecy H
Nouv Presse Med. 1978 Sep 30;7(33):2933-8.
Seventy seven patients from 32 families suffereing from angioneurotic oedema were studied and a single theory of the disorder is suggested. The functional abnormality of alpha2 neuraminoglycoprotein (NGP) or of C1 esterase inhibitor is related involvement of the structure gene (s) controlling its synthesis. Particular immunochemical characteristics of the inhibitor seen in severals families and remaining constant through a number of generations would indicate the existence of a phenomenon of functional haploidism in these heterozygous patients. Treatment of the condition with androgens suggests the existence of two varieties of alpha2 NGP molecules which are differentiated on the basis of their complete or incomplete glycoconjugation in the hepatocyte.
对来自32个患有血管性水肿家庭的77名患者进行了研究，并提出了关于该疾病的单一理论。α2神经氨酸糖蛋白（NGP）或C1酯酶抑制剂的功能异常与控制其合成的结构基因的相关参与有关。在几个家族中观察到的抑制剂的特定免疫化学特征，并在几代人中保持不变，这表明这些杂合子患者中存在功能单倍体现象。用雄激素治疗该疾病表明存在两种α2 NGP分子，它们根据在肝细胞中的完全或不完全糖缀合而有所区别。
