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Communication Dans Un Congrès Année : 2023

Acinar dysplasia in a full-term newborn with a NKX2.1 variant

Résumé

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 pulmonary hypertension requiring veno-arterial extracorporeal membrane oxygenation (ECMO). Histological examination of the lung biopsy specimen was consistent with the diagnosis of AcDys. Molecular analyses led to the identification of the missense heterozygous variant in NKX2.1 (NM_001079668) c.731A>G p.(Tyr244Cys), which is predicted to be pathogenic. After five weeks, because AcDys is a fatal disorder and the patient’s status worsened, life-sustaining therapies were withdrawn, and she died after a few hours. This study is the first to extend the phenotype of NKX2.1 pathogenic variant, to a fatal form of AcDys.
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Dates et versions

inserm-04222542 , version 1 (29-09-2023)

Identifiants

  • HAL Id : inserm-04222542 , version 1

Citer

Yohan Soreze, Nadia Nathan, Julien Jegard, Erik Hervieux, Pauline Clermidi, et al.. Acinar dysplasia in a full-term newborn with a NKX2.1 variant. European Respiratory Society, Sep 2023, Milan (Italie), Italy. ⟨inserm-04222542⟩
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