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成人囊性纤维化1例并文献复习

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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 Fibro-sis"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.
Adult cystic fibrosis:a case report and literature review
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 treat-ment 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 insufficien-cy,and electrolyte disturbance,and genetic testing result of a homozygous mutation of c.320C＞A:p.A107D,the pa-tient 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.

Cystic fibrosisBronchiectasis and hemoptysisCystic fibrosis transmembrane transduction regulatorGene mutationGenetic testing

陈倩、仇一帆、陈世龙、王超、董亮、孙丛丛

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山东大学山东省千佛山医院呼吸与危重症医学科,山东济南 250014

山东第一医科大学第一附属医院(山东省千佛山医院)呼吸与危重症医学科山东省呼吸疾病研究所,山东济南 250014

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

国家自然科学基金项目山东省重点研发计划项目山东省自然科学基金联合基金项目济南市呼吸疾病临床医学研究中心项目

822700322021SFGC0504ZR2021LSW015202132002

2024

10.6040/j.issn.1671-7554.0.2024.0075

山东大学学报(医学版)
山东大学

山东大学学报(医学版)

CSTPCD北大核心
影响因子：0.841
ISSN：1671-7554
年,卷(期)：2024.62(7)