Malina Mohtadi, Ruba Habib, Abraam Rezkalla, George Horani, Radhika Tailor, Patrick Michael
{"title":"Unmasking Cystic Fibrosis in Adulthood, a Case Report.","authors":"Malina Mohtadi, Ruba Habib, Abraam Rezkalla, George Horani, Radhika Tailor, Patrick Michael","doi":"10.1177/23247096251334248","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251334248"},"PeriodicalIF":0.9000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12033639/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of investigative medicine high impact case reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/23247096251334248","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/4/11 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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.