Towards personalized therapies for genetic disorders of surfactant dysfunction.

doi:10.1016/j.siny.2023.101500

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Article

Towards personalized therapies for genetic disorders of surfactant dysfunction.

Seminars in fetal & neonatal medicine - 1 Dec 2023

Peers de Nieuwburgh Maureen, Wambach Jennifer A, Griese Matthias, Danhaive Olivier

Abstract excerpt

Genetic disorders of surfactant dysfunction are a rare cause of chronic, progressive or refractory respiratory failure in term and preterm infants. This review explores genetic mechanisms underpinning surfactant dysfunction, highlighting specific surfactant-associated genes including SFTPB, SFTPC, ABCA3, and NKX2.1. Pathogenic variants in these genes contribute to a range of clinical presentations and courses,...

Topics

Infant
Child
Adult
Infant, Newborn
Humans
Pulmonary Surfactant-Associated Protein B
Infant, Premature
Mutation
Lung Diseases, Interstitial
Respiratory Insufficiency

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Identifiers

PMID: 38036307
DOI: 10.1016/j.siny.2023.101500
PMCID: PMC10753445

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