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[Glanzmann血小板无力症的家族性发病情况]

[Familial occurrence of Glanzmann thrombasthenia].

作者信息

Musiał J, Krzanowski M, Judkiewicz L, Cierniewski C

机构信息

Kliniki Alergii i Immunologii AM, Krakowie.

出版信息

Pol Tyg Lek. 1992;47(5-6):138-40.

PMID:1437802
Abstract

Glanzmann's thrombasthenia, known also as Glanzmann's disease, is an autosomally inherited hemorrhagic disease with unique abnormalities of platelet functions. Authors present a large family in which Glanzmann's disease was diagnosed in the father and two sons. An analysis of platelet membranes enabled diagnosis of Glanzmann's thrombasthenia type II. A decrease in clot contractibility, fibrinogen binding to blood platelets, and decreased glycoprotein IIb and IIIa levels with marked impairment of GP IIb and IIIa complexes formation were characteristic for affected family members. One daughter died 8 days after birth with the symptoms of hemorrhagic diathesis. Mother and remaining three sons are healthy without the signs of Glanzmann's disease.

摘要

血小板无力症,也称为格兰茨曼病,是一种常染色体遗传性出血性疾病,其血小板功能存在独特异常。作者介绍了一个大家庭,其中父亲和两个儿子被诊断患有血小板无力症。对血小板膜的分析使得能够诊断出II型血小板无力症。受影响家庭成员的特征是血块收缩性降低、纤维蛋白原与血小板结合减少、糖蛋白IIb和IIIa水平降低以及GP IIb和IIIa复合物形成明显受损。一个女儿出生8天后因出血素质症状死亡。母亲和其余三个儿子健康,没有血小板无力症的迹象。

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