Cuzmici-Barabaș Zina, Cătană Andreea, Militaru Mariela Sanda, Garbea Oana, Cătană Iuliu Vlad, Pop Ioan Victor
Department of Molecular Sciences, University of Medicine and Pharmacy, 4000012 Cluj-Napoca, Romania.
Department of Oncogenetics, 'I. Chiricuță' Institute of Oncology, 4000015 Cluj-Napoca, Romania.
Exp Ther Med. 2022 Jun;23(6):387. doi: 10.3892/etm.2022.11314. Epub 2022 Apr 12.
Sensorineural hearing loss (SSHL) with a sudden onset is frequently encountered as a medical emergency in the ear, nose and throat (ENT) practice. The exact pathophysiology of the disease remains unknown, with the most likely etiologies being viral infection, inflammation, drug toxicity, trauma, or autoimmune response. Even though thrombophilia and cerebrovascular complications may lead, among others, to sudden neurosensorial hearing loss, its diagnosis is most often made following the onset of thrombotic complications. A case of a young female patient with unknown congenital hypercoagulation status complicated with lateral sinus thrombosis and unilateral drug-induced reversible hearing loss is presented. Molecular testing confirmed the diagnosis of genetic thrombophilia, due to the homozygous V Leiden, homozygous A1298C, and heterozygous C677T mutations. Although hereditary thrombophilia is a well-known topic in medical practice, current guidelines require continuous improvement, especially among patients treated in departments where this pathology is more difficult to recognize and manage.
突发性感音神经性听力损失（SSHL）在耳鼻喉科（ENT）临床中常作为医疗急症出现。该病的确切病理生理学仍不清楚，最可能的病因是病毒感染、炎症、药物毒性、创伤或自身免疫反应。尽管血栓形成倾向和脑血管并发症等可能导致突发性感音神经性听力损失，但通常在血栓形成并发症发生后才做出诊断。本文介绍了一名年轻女性患者的病例，该患者先天性高凝状态不明，并发外侧窦血栓形成和单侧药物性可逆性听力损失。分子检测证实了遗传性血栓形成倾向的诊断，原因是存在纯合子V Leiden、纯合子A1298C和杂合子C677T突变。尽管遗传性血栓形成倾向在医学实践中是一个众所周知的话题，但当前指南仍需不断完善，尤其是在那些更难识别和管理这种病理情况的科室所治疗的患者中。
