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Article

Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.

Neonatology - 1 Jan 2024

Soreze Yohan, Nathan Nadia, Jegard Julien, Hervieux Erik, Clermidi Pauline, Sileo Chiara, Louvrier Camille, Legendre Marie, Coulomb L'Herminé Aurore

Abstract excerpt

Acinar dysplasia (AcDys) is one of the three main diffuse developmental disorders of the lung. The transcription factor NK2 homeobox 1 (NKX2.1) partly controls the synthesis of surfactant proteins by type 2 alveolar epithelial cells (AEC2), and germline mutations are known to be associated with brain-lung thyroid syndrome. We report the case of a full-term neonate who developed refractory respiratory failure with...

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Identifiers

PMID: 38035569
DOI: 10.1159/000534076

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Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.PMID 38035569Read ↗

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