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一个患有凝血因子VII缺乏症的家族:可能的常染色体显性遗传传递。

A Family With Factor VII Deficiency: A Possible Autosomal Dominant Transmission.

作者信息

Song Zheng, Garcia Stephenie, Nandhagopal Thiagarajan, Kim Stanley

机构信息

Family Medicine, Rio Bravo Family Medicine Residency Program, Bakersfield, USA.

Pediatrics, Kern Medical Center, Bakersfield, USA.

出版信息

Cureus. 2025 Apr 18;17(4):e82526. doi: 10.7759/cureus.82526. eCollection 2025 Apr.

Abstract

Coagulation factor VII plays a crucial role in the extrinsic pathway of the coagulation cascade. Deficiency of coagulation factors, including factor VII, is a rare but recognized cause of abnormal uterine bleeding (AUB) in women. This case report presents an 11-year-old previously healthy girl who arrived at the emergency department with 18 days of heavy menstrual bleeding and hemodynamic instability due to severe anemia. Laboratory evaluation revealed prolonged prothrombin time (PT/INR) with a normal partial thromboplastin time (PTT). A factor VII activity assay confirmed a severely decreased serum factor VII level. Bleeding was successfully managed with recombinant human factor VII. Further family screening showed reduced factor VII activity in the patient's mother and three siblings, while the father's levels were normal, suggesting a possible dominant inheritance pattern. However, genetic testing is required to confirm this hypothesis.

摘要

凝血因子VII在凝血级联反应的外源性途径中起关键作用。包括因子VII在内的凝血因子缺乏是女性异常子宫出血(AUB)的一种罕见但已被认识的原因。本病例报告介绍了一名11岁以前健康的女孩,她因严重贫血导致月经大量出血18天并出现血流动力学不稳定而到急诊科就诊。实验室检查显示凝血酶原时间(PT/INR)延长,部分凝血活酶时间(PTT)正常。因子VII活性测定证实血清因子VII水平严重降低。使用重组人因子VII成功控制了出血。进一步的家族筛查显示患者的母亲和三个兄弟姐妹的因子VII活性降低,而父亲的水平正常,提示可能为显性遗传模式。然而,需要进行基因检测来证实这一假设。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb3c/12085932/7c4d8f6adf5d/cureus-0017-00000082526-i01.jpg

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