Case report: Fibrotic interstitial lung disease as the initial manifestation of hereditary pulmonary alveolar proteinosis caused by CSF2RB mutation.

病例报告 ： 以 CSF2RB 突变引起的遗传性肺泡蛋白沉积症为首发表现的纤维化间质性肺病。

• 影响指数: 5.988
• 发表时间: 2023
• 来源期刊: Front Pharmacol
• DOI: 10.3389/fphar.2023.1252193
• PMID: 38259275
• 文章类型: Case Reports
• 中科院分区: Q1
• 方向: 医学
• 作者列表: Li Q,Xie H,Li M,Cheng K

关键词: CSF2RB; chest high-resolution computed tomography; fibrotic interstitial lung disease; mutation; pulmonary alveolar proteinosis

Abstract

A 50-year-old male was admitted to the hospital with a 3-year history of dyspnea and cough. Chest high-resolution computed tomography (HRCT) did not show typical features of pulmonary alveolar proteinosis (PAP), but rather atypical features of interstitial lung disease with fibrosis. The diagnosis of PAP was confirmed through transbronchial lung cryobiopsy. Whole exome sequencing identified a rare homozygous frame shift mutation (c.304_305del:p.S102Ffs*5) in exon 3 of the CSF2RB gene in our patient. This case represents a rare occurrence of fibrotic interstitial lung disease in PAP.

摘要

一名50岁男性入院，有3年呼吸困难和咳嗽病史。胸部高分辨率计算机断层扫描（HRCT）未显示肺泡蛋白沉积症（PAP）的典型特征，而是间质性肺病纤维化的非典型特征。经支气管肺冷冻活检证实了PAP的诊断。全外显子组测序鉴定出一种罕见的纯合移码突变（c.304_305del：p。我们患者CSF2RB基因外显子3中的S102Ffs*5）。此病例代表PAP中罕见的纤维化间质性肺病。