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本文引用的文献

1
Congenital prothrombin defects: they are not only associated with bleeding but also with thrombosis: a new classification is needed.先天性凝血酶原缺陷:它们不仅与出血有关,还与血栓形成有关:需要一种新的分类方法。
Hematology. 2018 Mar;23(2):105-110. doi: 10.1080/10245332.2017.1359900. Epub 2017 Aug 1.
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.
4
A Rare Case of Inherited Factor-II Deficiency Causing Life-Threatening Menorrhagia.一例罕见的遗传性凝血因子II缺乏导致危及生命的月经过多病例。
Ann Med Health Sci Res. 2012 Jul;2(2):202-3. doi: 10.4103/2141-9248.105675.
5
Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama.预防性给予凝血酶原复合物浓缩物治疗新型移码突变导致的先天性凝血酶原缺乏症: saitama 因子。
Pediatr Blood Cancer. 2013 Mar;60(3):503-5. doi: 10.1002/pbc.24387. Epub 2012 Nov 14.
6
Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity.基于凝血因子活性与临床出血严重程度之间的关联对罕见出血性疾病(RBDs)进行分类。
J Thromb Haemost. 2012 Sep;10(9):1938-43. doi: 10.1111/j.1538-7836.2012.04844.x.
7
True congenital prothrombin deficiency due to a 'new' mutation in the pre-propeptide (ARG-39 GLN).由于前肽(精氨酸-39 谷氨酰胺)中的“新”突变导致的真正先天性凝血酶原缺乏症。
Acta Haematol. 2008;120(2):82-6. doi: 10.1159/000162281. Epub 2008 Oct 14.
8
Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias.罕见出血性疾病登记处:凝血因子II、V、VII、X、XIII、纤维蛋白原缺乏症及异常纤维蛋白原血症。
J Thromb Haemost. 2004 Feb;2(2):248-56. doi: 10.1111/j.1538-7836.2003.t01-1-00553.x.

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.

DOI:10.7759/cureus.55940
PMID:38601422
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11005078/
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。