Hereditary pulmonary alveolar proteinosis as collateral damage from a large chromosomal deletion

Anne Schmidt; Priti Kenia; Cliff Morgan; Andrew Bush

doi:10.1002/ppul.25336

Hereditary pulmonary alveolar proteinosis as collateral damage from a large chromosomal deletion

Pediatr Pulmonol. 2021 Jun;56(6):1687-1689. doi: 10.1002/ppul.25336. Epub 2021 Mar 8.

Authors

Anne Schmidt¹, Priti Kenia², Cliff Morgan³, Andrew Bush¹

Affiliations

¹ Department of Pediatric Respiratory Medicine, Royal Brompton Hospital, London, UK.
² Department of Pediatric Respiratory Medicine, Birmingham Women's and Children's Hospital, Birmingham, UK.
³ Department of Anaesthesia, Royal Brompton Hospital, London, UK.

PMID: 33629535
DOI: 10.1002/ppul.25336

Abstract

A girl with a known chromosomal deletion at Xp22.33, learning difficulties and short stature presented with dyspnea and dry cough and an abnormal chest X-ray. Computed tomography was typical for pulmonary alveolar proteinosis (PAP), and the diagnosis was confirmed invasively. More detailed genetic analysis detected a homozygous deletion of the colony-stimulating factor-2-receptor alpha subunit (CSF2RA) gene. In this patient, the Xp22.33 deletion affected 8 genes, including CSF2RA, leading to GM-CSF receptor dysfunction and hereditary PAP. This is the first report of childhood interstitial lung disease (chILD) as collateral damage from a large chromosomal deletion.

Keywords: interstitial lung disease (ILD); surfactant biology and pathophysiology.

MeSH terms

Child
Female
Homozygote
Humans
Pulmonary Alveolar Proteinosis* / diagnostic imaging
Pulmonary Alveolar Proteinosis* / genetics
Sequence Deletion
Signal Transduction
Tomography, X-Ray Computed