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孤立性凝血酶原缺乏症:一例罕见凝血障碍病例报告及文献综述

Isolated Prothrombin Deficiency: A Case Report of a Rare Coagulation Disorder and Review of Literature.

作者信息

Bollineni Pranathi, Suman Febe Renjitha, Jayaraman Dhaarani, Subramani Nivedha, Gaddam Sudeep

机构信息

Pediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.

Pathology and Laboratory Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.

出版信息

Cureus. 2024 Mar 11;16(3):e55940. doi: 10.7759/cureus.55940. eCollection 2024 Mar.

Abstract

Congenital prothrombin deficiency is a rare hemorrhagic disorder, frequent in areas with high degrees of consanguinity as it is autosomal recessive in nature. Clinical manifestations are highly variable, ranging from mild episodes of bleeding to severe hemorrhages. Here, we report a child with isolated prothrombin deficiency who presented with a history of pain and soreness in the prepuce associated with bleeding. Laboratory evaluation showed an altered coagulation profile with a prothrombin activity level of 29.8%, indicative of factor-II deficiency. This case highlights the importance of coagulation screening in all patients before even minor invasive procedures and the role of a detailed coagulation profile in confirming a diagnosis in the case of abnormal screening tests.

摘要

先天性凝血酶原缺乏症是一种罕见的出血性疾病,在近亲结婚率高的地区较为常见,因为它本质上是常染色体隐性遗传疾病。其临床表现差异很大,从轻微出血发作到严重出血不等。在此,我们报告一名患有孤立性凝血酶原缺乏症的儿童,该患儿有包皮疼痛和酸痛伴出血的病史。实验室检查显示凝血指标异常,凝血酶原活性水平为29.8%,提示因子II缺乏。该病例强调了在进行哪怕是微小的侵入性操作之前,对所有患者进行凝血筛查的重要性,以及详细的凝血指标在筛查试验异常时确诊中的作用。

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Congenital coagulation factor V deficiency with intracranial hemorrhage.先天性凝血因子 V 缺乏伴颅内出血。
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Factor X deficiency: a rare cause of puberty menorrhagia.X 因子缺乏:青春期月经过多的罕见病因。
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本文引用的文献

2
Rare bleeding disorders: diagnosis and treatment.罕见出血性疾病:诊断与治疗。
Blood. 2015 Mar 26;125(13):2052-61. doi: 10.1182/blood-2014-08-532820. Epub 2015 Feb 23.
3
Congenital prothrombin deficiency: an update.先天性凝血酶原缺乏症:更新。
Semin Thromb Hemost. 2013 Sep;39(6):596-606. doi: 10.1055/s-0033-1348948. Epub 2013 Jul 12.

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