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先天性无纤维蛋白原血症伴面部血肿

Congenital Afibrinogenemia With Facial Haematoma.

作者信息

Hassan Mohsin, Khan Maaz, Ghulam Moula, Anthony Nouman, Khan Mohsin

机构信息

Pediatrics, Lady Reading Hospital, Peshawar, PAK.

Internal Medicine, Rehman Medical Institute, Peshawar, PAK.

出版信息

Cureus. 2024 Feb 15;16(2):e54229. doi: 10.7759/cureus.54229. eCollection 2024 Feb.

Abstract

Congenital afibrinogenemia is a rare inherited blood disorder characterized by a deficiency of fibrinogen, leading to abnormal blood clotting. It is caused by mutations in fibrinogen genes and results in a propensity for bleeding. We present the case of a one-year-old male child with congenital afibrinogenemia who developed a left-sided facial haematoma following a fall from a walker. The child had a history of active bleeding during cannulation and had not undergone circumcision due to the risk of bleeding. This case highlights the need for timely diagnosis and appropriate management of rare bleeding disorders such as congenital afibrinogenemia. Collaboration between different specialties, including haematology and genetic counseling, is crucial for comprehensive care. The rarity of the condition underscores the importance of raising awareness among healthcare professionals. Genetic counseling and family studies are essential for assessing genetic implications and guiding decision-making. Further advancements in diagnostic tests and replacement therapy are needed to improve the management of patients with afibrinogenemia, particularly in regions with a high prevalence of consanguineous marriages.

摘要

先天性纤维蛋白原缺乏血症是一种罕见的遗传性血液疾病,其特征是纤维蛋白原缺乏,导致血液凝固异常。它由纤维蛋白原基因突变引起,会导致出血倾向。我们报告一例一岁男性先天性纤维蛋白原缺乏血症患儿,该患儿从学步车摔倒后出现左侧面部血肿。该患儿在插管时有活动性出血史,因出血风险未接受包皮环切术。该病例凸显了对先天性纤维蛋白原缺乏血症等罕见出血性疾病进行及时诊断和适当管理的必要性。包括血液学和遗传咨询在内的不同专业之间的协作对于全面护理至关重要。该疾病的罕见性凸显了提高医疗专业人员认识的重要性。遗传咨询和家族研究对于评估遗传影响和指导决策至关重要。需要在诊断测试和替代疗法方面取得进一步进展,以改善纤维蛋白原缺乏血症患者的管理,特别是在近亲结婚率高的地区。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4667/10943596/a9c98b3a9971/cureus-0016-00000054229-i01.jpg

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