Jarzynka Sylwia, Dobrosz Mateusz, Jaworski Sebastian, Jóźwicki Kamil, Wierzba Sebastian, Barbarska Olga, Minkiewicz-Zochniak Anna
Department of Medical Biology, Medical University of Warsaw, Litewska 14/16, 00-575 Warsaw, Poland.
Student Scientific Club Agar, Department of Medical Biology, Medical University of Warsaw, Litewska 14/16, 00-575 Warsaw, Poland.
J Clin Med. 2025 May 5;14(9):3187. doi: 10.3390/jcm14093187.
Cystic fibrosis (CF) is a multisystemic disease caused by a genetic defect, namely a mutation in the CFTR gene, that results in the production of an abnormal protein that regulates the flow of chloride ions through epithelial cells, leading to the dehydration of secreted mucus and changes in its biological properties. Chronic inflammation and recurrent respiratory infections progressively damage lung tissue, leading to respiratory and cardiorespiratory failure. This study aims to present a clinical case and explore the clinical changes in CF that may influence the provision of pre-hospital first aid. The study presents a case report of a 23-year-old CF patient undergoing evaluation for lung transplantation, infected with and with the MSSA phenotype, and in a severe condition due to infectious exacerbation. Despite antibiotic treatment, the patient's condition deteriorated, leading to respiratory failure and cardiac arrest. Emergency measures were taken to maintain airway patency-the patient was sedated, intubated, and connected to a ventilator. CF involves systemic complications that, during exacerbations, may require urgent interventions. Cystic fibrosis is associated with multiple systemic complications, some of which may, during exacerbations, require emergency medical interventions. Providing care to this patient group involves specific procedures addressing the consequences of the underlying disease. Due to increasing survival rates and the emergence of new phenotypes, there is a need for the continuous education of medical personnel, including emergency responders, regarding the management of genetically determined diseases. This study underscores the importance of recognizing CF's complex nature and adapting emergency care accordingly to ensure timely and effective intervention in life-threatening situations.
囊性纤维化(CF)是一种由基因缺陷引起的多系统疾病,即CFTR基因发生突变,导致产生一种异常蛋白质,该蛋白质调节氯离子通过上皮细胞的流动,从而导致分泌的黏液脱水并改变其生物学特性。慢性炎症和反复的呼吸道感染会逐渐损害肺组织,导致呼吸和心肺功能衰竭。本研究旨在呈现一个临床病例,并探讨可能影响院前急救提供的CF临床变化。该研究呈现了一名23岁CF患者的病例报告,该患者正在接受肺移植评估,感染了具有MSSA表型的[具体病菌未给出],并因感染加重而病情严重。尽管进行了抗生素治疗,患者的病情仍恶化,导致呼吸衰竭和心脏骤停。采取了紧急措施以维持气道通畅——患者被镇静、插管并连接到呼吸机。CF涉及全身并发症,在病情加重期间可能需要紧急干预。囊性纤维化与多种全身并发症相关,其中一些在病情加重期间可能需要紧急医疗干预。为该患者群体提供护理涉及针对基础疾病后果的特定程序。由于生存率的提高和新表型的出现,需要对包括急救人员在内的医务人员进行关于遗传性疾病管理的持续教育。本研究强调了认识CF复杂性质并相应调整急救护理以确保在危及生命的情况下及时有效干预的重要性。