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遗传性因子 XIII 缺乏症。

Inherited factor XIII deficiency.

作者信息

Waks D, Arnout J, Demulder A, Ferster A, Fondu P

出版信息

Acta Clin Belg. 1989;44(1):52-7. doi: 10.1080/17843286.1989.11717985.

Abstract

A new observation of inherited factor XIII deficiency is described. The patient had presented in the past with an umbilical haemorrhage, a cerebral haemorrhage, multiple haematomas with delayed onset after minimal trauma, and episodes of spontaneous haemarthrosis. The biological diagnosis was made at the age of 7 years. The child had undetectable transamidating activity and factor XIII a chains, while the level of b chains was reduced. The values observed in the parents were intermediate between those of the patient and those of normal plasma. Heated factor VIII concentrates were found to contain only low amounts of factor XIII, and were thus unsuitable for the prophylactic therapy of this rare disease. The patient was successfully treated with monthly injections of a factor XIII concentrate.

摘要

本文描述了一例遗传性因子 XIII 缺乏症的新病例。该患者过去曾出现脐部出血、脑出血、轻微创伤后延迟出现的多处血肿以及自发性关节积血发作。7 岁时做出生物学诊断。患儿的转酰胺酶活性和因子 XIII a 链检测不到,而 b 链水平降低。其父母的检测值介于患者和正常血浆之间。发现加热的因子 VIII 浓缩物仅含有少量因子 XIII,因此不适用于这种罕见疾病的预防性治疗。该患者通过每月注射因子 XIII 浓缩物成功得到治疗。

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