[严重因子 XIII 缺乏症。纤维蛋白稳定因子亚基及周转率的研究（作者译）]

[Severe factor XIII-deficiency. Studies on subunits and turnover of the fibrin stabilizing factor (author's transl)].

作者信息

Zimmermann R, Ehlers W, Manz F, Meinrenken W, Egbring R, Gemmeke H

出版信息

Blut. 1977 Dec;35(6):457-64. doi: 10.1007/BF00996692.

Abstract

An infant with congenital homozygous factor XIII deficiency demonstrated a severe retroperitoneal and intracerebral bleeding with development of a posthemorrhagic hydrocephalus in the first months of life. Factor XIII activity was not measurable by means of enzymatic method and the antiserum inhibition test. Quantitative immunoelectrophoresis according to Laurell presented absence of the subunit A, whereas the concentration of subunit S was reduced to 47% the normal value. After replacement therapy factor XIII activity was estimated at 23% and corresponded to the concentration of the subunit A, concentration of subunit S increased by 20%. The turnover rate of fibrin stabilizing factor could be observed over a period of 39 days. The half life was estimated at 4,7 days. The child developed normally after continous substitution with 250 units of factor XIII concentrate every 6 weeks.

摘要

一名患有先天性纯合因子 XIII 缺乏症的婴儿在出生后的头几个月出现了严重的腹膜后和颅内出血，并发展为出血后脑积水。通过酶法和抗血清抑制试验无法检测到因子 XIII 活性。根据 Laurell 法进行的定量免疫电泳显示亚基 A 缺失，而亚基 S 的浓度降至正常值的 47%。替代治疗后，因子 XIII 活性估计为 23%，与亚基 A 的浓度相对应，亚基 S 的浓度增加了 20%。在 39 天的时间内观察到了纤维蛋白稳定因子的周转率。半衰期估计为 4.7 天。该儿童在每 6 周持续输注 250 单位因子 XIII 浓缩物后正常发育。