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非典型囊性纤维化:57岁时的诊断

Atypical Cystic Fibrosis: Diagnosis at the Age of 57 Years.

作者信息

Sagesse Gabrielle J, Yadava Sanjay, Mandava Anupa

机构信息

Internal Medicine, State University of New York Upstate Medical University and the Syracuse Veterans Affairs Medical Center, Syracuse, USA.

出版信息

Cureus. 2020 Oct 9;12(10):e10863. doi: 10.7759/cureus.10863.

Abstract

Cystic fibrosis (CF) is an autosomal recessive, multi-organ disorder found predominantly among Caucasians. It classically presents in childhood with chronic productive cough, malabsorption causing steatorrhea, and failure to thrive. We present a 75-year-old female diagnosed with CF at the age of 57 years, which highlights the natural history and challenges in the diagnosis of atypical CF, including broadening physicians' respiratory differential diagnosis, limited patient symptoms, and late age of symptom onset.

摘要

囊性纤维化(CF)是一种常染色体隐性多器官疾病,主要见于白种人。其典型表现为儿童期慢性咳痰、脂肪吸收不良导致脂肪泻以及发育不良。我们报告一例75岁女性,她在57岁时被诊断为CF,这凸显了非典型CF的自然病程和诊断挑战,包括拓宽医生的呼吸道鉴别诊断范围、患者症状有限以及症状出现较晚。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7258/7652023/da74251e2363/cureus-0012-00000010863-i01.jpg

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