一项描述性研究,针对成人被诊断患有囊性纤维化或CF相关疾病的患者
Colm Kennedy1, Alan Anderson1, Simon Doe1
1Cystic Fibrosis Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP.
Clinical medicine (London, England)
|January 22, 2026
概括
囊性纤维化 (CF) 通常在成年时被诊断出来,许多患者有可治疗的遗传变异. 早期诊断CF和相关疾病可以改善患者的治疗结果和生殖计划.
科学领域:
- 肺部病理学 肺部病理学
- 遗传学 是一个遗传学.
- 医学诊断 医学诊断 医学诊断
背景情况:
- 成年期的囊性纤维化 (CF) 诊断越来越被认可.
- 许多成人发病的CF患者出现了非经典症状和先前的错误诊断,如支气管切除症.
研究的目的:
- 确定成人发病CF诊断的流行率和特征.
- 评估基因测试的实用性和调节器治疗在这个人群中的潜力.
主要方法:
- 在CF中心对370名患者的回顾性分析.
- 对诊断方法的审查,包括临床评估,汗水测试和标准和扩展基因变异测试.
主要成果:
- 13.2%的患者在成年后被诊断出患有CF (平均年龄为42岁).
- 成年发病的CF患者表现出较轻的疾病 (平均FEV1 68%) 和较低的胰腺功能不全率 (35%).
- 94%的人通过标准基因检测检测出可检测的变异,通过扩展测试识别罕见的变异;97%的人有可用CF调节器治疗的变异.
结论:
- 成年人对CF的诊断是显著的,往往先有其他条件.
- 基因检测对于识别成年人CF和CF相关疾病至关重要.
- 诊断可以获得特定的治疗方法,包括CF调节器疗法,并告知生殖决策.
更多相关视频
07:04Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
Published on: February 11, 2017
20.0K
07:38Design and Development of a Model to Study the Effect of Supplemental Oxygen on the Cystic Fibrosis Airway Microbiome
Published on: August 3, 2021
2.8K
相关概念视频
Cystic Fibrosis: Pathogenesis
743
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
743
Cystic Fibrosis: Management
485
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
Sinus disease and chronic...
485
Pleural Disorders: Types and Brief Description
639
The pleura is a vital part of the respiratory system. It's a double-layered membrane surrounding the lungs and lining the chest cavity. The two layers of the pleura are:
639
Theory of Romantic Attachment in Adulthood
48.7K
Attachment is a long-standing connection or bond with others. While Attachment Theory was conceived in developmental psychology to describe infant-caregiver bonding, it's been extended into adulthood to include romantic relationships.
48.7K
Emerging Adulthood
648
Jeffrey Arnett's concept of emerging adulthood offers a framework to understand the unique developmental stage between adolescence and full-fledged adulthood, generally from ages 18 to 25. This period is marked by extensive exploration and shifts in identity, relationships, and career choices, a process known in psychology as role experimentation. Emerging adulthood reflects the evolving cultural expectations surrounding adulthood and the dynamic process of personal transformation during...
648
Cognitive Development During Adulthood
822
Cognitive development continues throughout adulthood, undergoing significant shifts across early, middle, and late stages. Individual transition occurs from adolescent idealism to pragmatic and adaptable thinking in early adulthood. During this period, individuals learn to integrate personal beliefs with the recognition that other perspectives are equally valid. Exposure to the complexities of modern society, diverse experiences, and higher education contribute to this adaptive thought process,...
822
