揭露成年期囊性纤维化,一例报告。

IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL
Malina Mohtadi, Ruba Habib, Abraam Rezkalla, George Horani, Radhika Tailor, Patrick Michael
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引用次数: 0

摘要

囊性纤维化(CF)是一种常见于儿童早期的遗传性疾病,由囊性纤维化跨膜传导调节基因突变引起,导致肺、胰腺和其他器官粘液积聚。虽然大多数诊断发生在儿童时期,但越来越多的病例在成年期被发现,这对识别和管理提出了独特的挑战。本病例突出了一位37岁的患者,在出现慢性呼吸道症状和体重减轻后被诊断为CF。CF的晚期诊断仍然很少见,但可能会延误适当的治疗,潜在地影响长期结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Unmasking Cystic Fibrosis in Adulthood, a Case Report.

Cystic fibrosis (CF) is a genetic disorder typically diagnosed in early childhood, caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, leading to thick mucus accumulation in the lungs, pancreas, and other organs. While most diagnoses occur in childhood, a growing number of cases are being identified in adulthood, presenting unique challenges for recognition and management. This case highlights a 37-year-old patient diagnosed with CF after presenting with chronic respiratory symptoms, and weight loss. Late diagnosis of CF remains rare but can delay appropriate treatment, potentially impacting long-term outcomes.

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来源期刊
CiteScore
1.90
自引率
0.00%
发文量
165
审稿时长
12 weeks
期刊介绍: The AFMR is committed to enhancing the training and career development of our members and to furthering its mission to facilitate the conduct of research to improve medical care. Case reports represent an important avenue for trainees (interns, residents, and fellows) and early-stage faculty to demonstrate productive, scholarly activity.
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