Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review.
Clin Case Rep
; 11(8): e7726, 2023 Aug.
Article
em En
| MEDLINE
| ID: mdl-37575464
ABSTRACT
We reported a case of a 7-year-old boy with pulmonary alveolar microlithiasis (PAM) and detected two novel compound heterozygous mutations of solute carrier family 34 member 2 (SLC34A2), EXON2-6 duplication and c.1218 (EXON11) C > A (p. Phe406Leu). His symptoms were nonspecific. Chest computed tomography (CCT) showed bronchiectasis, a mosaic feature, and extensive calcifications in both lungs. In addition, bronchoscopy showed bronchitis obliterans which has rarely been reported as a complication in the literature. This case aimed to explore the mechanism of PAM and emphasize the role of gene analysis in diagnosing rare pediatric diseases. Finally, we undertook a review of the current literature containing SLC34A2 gene mutations to update the gene mutation spectrum of PAM.
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1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Prognostic_studies
Idioma:
En
Revista:
Clin Case Rep
Ano de publicação:
2023
Tipo de documento:
Article