A Novel Variant in Pulmonary Alveolar Microlithiasis With Disseminated Pseudomonas Infection.
Where this comes from
- Record sourced from PubMed, PMID 40233944.
- Also identified by DOI 10.1542/peds.2024-068882.
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Abstract
With growing reports of severe presentations in children, increasing our genetic understanding of pulmonary alveolar microlithiasis (PAM) is crucial. We describe a 6-month-old infant presenting with bronchiolitis, with deterioration due to disseminated Pseudomonas infection, with novel homozygosity of a variant in SLC34A2, and with pulmonary calcospherites on postmortem analysis, in keeping with PAM.
Medical subject headings
- Calcinosis
- Genetic Diseases, Inborn
- Lung Diseases
- Pseudomonas Infections
- Sodium-Phosphate Cotransporter Proteins, Type IIb