Hereditary pulmonary alveolar proteinosis as collateral damage from a large chromosomal deletion.
Pediatr Pulmonol
; 56(6): 1687-1689, 2021 06.
Article
em En
| MEDLINE
| ID: mdl-33629535
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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteinose Alveolar Pulmonar
Limite:
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article