成人囊性纤维化1例并文献复习

doi:10.6040/j.issn.1671-7554.0.2024.0075

摘要/Abstract

摘要： 目的报告1例成人囊性纤维化患者的诊断及治疗过程并文献复习,以提高临床医生对此种罕见疾病的认识,实现早期诊断、规范治疗和管理。方法回顾性分析2022年4月9日山东省千佛山医院呼吸与危重症医学科收治的以支气管扩张并咯血为主要表现的1例囊性纤维化患者的临床资料。分别以“囊性纤维化”“Cystic Fibrosis”AND“Case Reports”为关键词检索中国知网、万方数据知识服务平台、PubMed数据库中相关文献,进行分析与总结。结果患者,女,24岁,因“反复咳嗽、咳痰,活动耐力下降20余年,咯血6年”就诊,根据患者支气管扩张并咯血、反复肺部感染、胃肠动力不足、电解质紊乱等临床症状及影像学改变,结合基因检测提示c.320C>A:p.A107D纯合变异,诊断为囊性纤维化。结论国人囊性纤维化发病率低,临床医师需要提高其病因及临床表现的认识,当患者出现气道、消化腺、消化道、汗腺等多处黏液流变学改变时,需考虑囊性纤维化,建议行基因检测,早期诊断并及时治疗,有助于改善预后。

关键词: 囊性纤维化, 支气管扩张并咯血, 囊性纤维化跨膜转导调节因子, 基因突变, 基因检测

Abstract: Objective To report the treatment process and diagnosis of an adult patient with cystic fibrosis(CF)and review the literature, so as to improve clinicians awareness of this rare disease for early diagnosis, standardized treatment and management. Methods The clinical data of a CF patient with bronchiectasis and hemoptysis as the main manifestations admitted to the Department of Respiratory and Critical Care Medicine of Shandong Provincial Qianfoshan Hospital on April 9, 2022 were retrospectively analyzed. "Cystic Fibrosis" and "Case Reports" were used as keywords to search the related literature in China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed database. Results A 24-year-old female patient presented with "recurrent cough and expectoration, decreased activity endurance for more than 20 years, and hemoptysis for 6 years". According to the clinical symptoms and imaging changes such as bronchiectasis and hemoptysis, recurrent pulmonary infection, gastrointestinal insufficiency, and electrolyte disturbance, and genetic testing result of a homozygous mutation of c.320C>A:p.A107D, the patient was diagnosed with CF. Conclusion The incidence rate of CF in Chinese is low. The understanding of its etiology and clinical manifestations should be improved. When patients have multiple mucous rheological changes in the airways, digestive glands, digestive tract, sweat glands, and so on, CF needs to be considered. It is recommended to conduct gene testing, early diagnosis and timely treatment to improve the prognosis.

Key words: Cystic fibrosis, Bronchiectasis and hemoptysis, Cystic fibrosis transmembrane transduction regulator, Gene mutation, Genetic testing

中图分类号:

R193

陈倩,仇一帆,陈世龙,王超,董亮,孙丛丛. 成人囊性纤维化1例并文献复习[J]. 山东大学学报 (医学版), 2024, 62(7): 42-47.

CHEN Qian, QIU Yifan, CHEN Shilong, WANG Chao, DONG Liang, SUN Congcong. Adult cystic fibrosis: a case report and literature review[J]. Journal of Shandong University (Health Sciences), 2024, 62(7): 42-47.

参考文献

[1] Lu SP, Chen K, Song KJ, et al. Systems serology in cystic fibrosis: anti-Pseudomonas IgG1 responses and reduced lung function[J]. Cell Rep Med, 2023, 4(10): 101210. doi:10.1016/j.xcrm.2023.101210.
[2] Boyle MP, De Boeck K. A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect[J]. Lancet Respir Med, 2013, 1(2): 158-163.
[3] 囊性纤维化诊断与治疗中国专家共识编写组,中国罕见病联盟呼吸病学分会,中国支气管扩张症临床诊治与研究联盟. 囊性纤维化诊断与治疗中国专家共识(2023版)[J]. 中华结核和呼吸杂志,2023, 46(4): 352-372. Chinese Experts Cystic Fibrosis Consensus Committee,Chinese Alliance for Rare Lung Diseases, Chinese Alliance for Rare Diseases, Bonchiectasis-China. Chinese experts consensus statement: diagnosis and treatment of cystic fibrosis(2023)[J]. Chinese Journal of Tuberculosis and Respiratory Diseases, 2023, 46(4): 352-372.
[4] Stoltz DA, Meyerholz DK, Welsh MJ. Origins of cystic fibrosis lung disease[J]. N Engl J Med, 2015, 372(16): 1574-1575.
[5] Tümmler B. Puzzle resolved: CFTR mediates chloride homeostasis by segregating absorption and secretion to different cell types[J]. J Clin Invest, 2023, 133(20): e174667. doi: 10.1172/JCI174667.
[6] Saint-Criq V, Gray MA. Role of CFTR in epithelial physiology[J]. Cell Mol Life Sci, 2017, 74(1): 93-115.
[7] Patel D, Baliss M, Saikumar P, et al. A gastroenterologists guide to care transitions in cystic fibrosis from pediatrics to adult care[J]. Int J Mol Sci, 2023, 24(21): 15766. doi: 10.3390/ijms242115766.
[8] Barry PJ, Simmonds NJ. Diagnosing cystic fibrosis in adults[J]. Semin Respir Crit Care Med, 2023, 44(2): 242-251.
[9] Burgel PR, Burnet E, Regard L, et al. The changing epidemiology of cystic fibrosis: the implications for adult care[J]. Chest, 2023, 163(1): 89-99.
[10] Quon BS, Aitken ML. Cystic fibrosis: what to expect now in the early adult years[J]. Paediatr Respir Rev, 2012, 13(4): 206-214.
[11] Boyle MP. Adult cystic fibrosis[J]. JAMA, 2007, 298(15): 1787-1793.
[12] Hite MA, Gaertner WB, Garcia B, et al. Abdominal surgical procedures in adult patients with cystic fibrosis: what are the risks?[J]. Dis Colon Rectum, 2022, 65(8): e805-e815.
[13] Simmonds NJ. Introducing the adult cystic fibrosis series: an exciting time of change, but new challenges lie ahead[J]. Chest, 2021, 159(1): 3-4.
[14] Vender RL. Cystic fibrosis lung disease in adult patients[J]. Postgrad Med, 2008, 120(1): 64-74.
[15] Santos V, Cardoso AV, Lopes C, et al. Cystic fibrosis—comparison between patients in paediatric and adult age[J]. Rev Port Pneumol, 2017, 23(1): 17-21.
[16] Hewer SC, Tyrrell J. Cystic fibrosis and the transition to adult health services[J]. Arch Dis Child, 2008, 93(10): 817-821.
[17] Vanderwoude J, Azimi S, Read TD, et al. The role of hypermutation and collateral sensitivity in antimicrobial resistance diversity of Pseudomonas aeruginosa populations in cystic fibrosis lung infection[J]. mBio, 2024, 15(2): e0310923. doi: 10.1128/mbio.03109-23.
[18] Speert DP, Henry D, Vandamme P, et al. Epidemiology of Burkholderia cepacia complex in patients with cystic fibrosis, Canada[J]. Emerg Infect Dis, 2002, 8(2): 181-187.
[19] Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA[J]. Science, 1989, 245(4922): 1066-1073.
[20] 陈柏华,张思仲,杨元.我国大陆首例DNA分析证实的囊性纤维化病及其突变分析[J]. 中华医学遗传学杂志, 1995, 12(1): 5-9. CHEN Baihua, ZHANG Sizhong,YANG Yuan. The first case of CF in mainland China identified by DNA analysis[J]. Chinese Journal of Medical Genetics, 1995, 12(1): 5-9.
[21] Krasnova M, Efremova A, Bukhonin A, et al. The effect of complex alleles of the CFTR gene on the clinical manifestations of cystic fibrosis and the effectiveness of targeted therapy[J]. Int J Mol Sci, 2023, 25(1): 114. doi: 10.3390/ijms25010114.
[22] 田欣伦, 徐凯峰. 中国人囊性纤维化基因表现与欧美差异大[J]. 协和医学杂志, 2015, 6(3): 165. TIAN Xinlun, XU Kaifeng. The gene expression of cystic fibrosis in China is quite different from that in Europe and America[J]. Medical Journal of Peking Union Medical College Hospital, 2015, 6(3): 165.
[23] Ooi CY, Dorfman R, Cipolli M, et al. Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis[J]. Gastroenterology, 2011, 140(1): 153-161.
[24] 杨国建, 李敏. 儿童囊性纤维化的诊断和治疗[J]. 现代临床医学, 2020, 46(4): 304-306. YANG Guojian, LI Min. Diagnosis and treatment of cystic fibrosis in children[J]. Journal of Modern Clinical Medicine, 2020, 46(4): 304-306.
[25] Cao LY, Wu Y, Gong YC, et al. Small molecule modulators of cystic fibrosis transmembrane conductance regulator(CFTR): structure, classification, and mechanisms[J]. Eur J Med Chem, 2024, 265: 116120.
[26] Heijerman HGM, McKone EF, Downey DG, et al. Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial[J]. Lancet, 2019, 394(10212): 1940-1948.

多维度评价

Viewed

Full text

Abstract

Cited

Shared

Discussed