Journal of Shandong University (Health Sciences) ›› 2024, Vol. 62 ›› Issue (7): 42-47.doi: 10.6040/j.issn.1671-7554.0.2024.0075

• 呼吸系统疾病精准诊疗专题 • Previous Articles     Next Articles

Adult cystic fibrosis: a case report and literature review

CHEN Qian1, QIU Yifan1, CHEN Shilong2, WANG Chao2, DONG Liang1,2, SUN Congcong2   

  1. 1. Department of Respiratory, Shandong Provincial Qianfoshan Hospital, Shandong University, Jinan 250014, Shandong, China;
    2. Department of Respiratory, The First Affiliated Hospital of Shandong First Medical University &
    Shandong Provincial Qianfoshan Hospital, Shandong Institute of Respiratory, Jinan 250014, Shandong, China
  • Published:2024-09-20

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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

CLC Number: 

  • R193
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