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成年期隐匿性囊性纤维化病例报告

Unmasking Cystic Fibrosis in Adulthood, a Case Report.

作者信息

Mohtadi Malina, Habib Ruba, Rezkalla Abraam, Horani George, Tailor Radhika, Michael Patrick

机构信息

St. Joseph's University Medical Center, Internal Medicine, Paterson, NJ, USA.

St. Joseph's University Medical Center, Pulmonary and Critical Care, Paterson, NJ, USA.

出版信息

J Investig Med High Impact Case Rep. 2025 Jan-Dec;13:23247096251334248. doi: 10.1177/23247096251334248. Epub 2025 Apr 11.

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.

摘要

囊性纤维化(CF)是一种通常在儿童早期被诊断出的遗传性疾病,由囊性纤维化跨膜传导调节基因的突变引起,导致肺部、胰腺和其他器官中黏液积聚变稠。虽然大多数诊断发生在儿童期,但成年期确诊的病例越来越多,这给识别和管理带来了独特的挑战。本病例突出了一名37岁患者,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,但可能会延迟适当的治疗,从而潜在地影响长期预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c47/12033639/218a8232c52b/10.1177_23247096251334248-fig1.jpg

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