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

Qiuhong Li; Huikang Xie; Manhui Li; Kebin Cheng

doi:10.3389/fphar.2023.1252193

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

Front Pharmacol. 2024 Jan 8:14:1252193. doi: 10.3389/fphar.2023.1252193. eCollection 2023.

Authors

Qiuhong Li^#¹, Huikang Xie^#², Manhui Li^#¹, Kebin Cheng¹

Affiliations

¹ Department of Respiratory and Critical Care Medicine, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, Shanghai, China.
² Department of Pathology, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, Shanghai, China.

^# Contributed equally.

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.

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

Publication types

Case Reports

Grants and funding

This work was supported by grants from the National Natural Science Foundation of China (grant number 82000068); Natural Science Foundation of Shanghai (grant number 20ZR1446800), Shanghai Municipal Health Commission (grant number 202140501).