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

Frontiers in Pharmacology (Jan 2024)

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

Affiliations

Qiuhong Li: Department of Respiratory and Critical Care Medicine, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, Shanghai, China
Huikang Xie: Department of Pathology, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, Shanghai, China
Manhui Li: Department of Respiratory and Critical Care Medicine, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, Shanghai, China
Kebin Cheng: Department of Respiratory and Critical Care Medicine, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, Shanghai, China

DOI: https://doi.org/10.3389/fphar.2023.1252193
Journal volume & issue: Vol. 14

Abstract

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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.

Published in Frontiers in Pharmacology

ISSN: 1663-9812 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Therapeutics. Pharmacology
Website: http://journal.frontiersin.org/journals/pharmacology

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