Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course - 22/03/21
Doi : 10.1016/j.jpeds.2020.12.055
Xin Si, MD 1, ⁎ 
, Lea C. Steffes, MD 1, Jennifer C. Schymick, MD 2, Florette K. Hazard, MD 3, Michael C. Tracy, MD 1, David N. Cornfield, MD 1
, Lea C. Steffes, MD 1, Jennifer C. Schymick, MD 2, Florette K. Hazard, MD 3, Michael C. Tracy, MD 1, David N. Cornfield, MD 1 1 Division of Pediatric Pulmonary, Center for Excellence in Pulmonary Biology, Asthma and Sleep Medicine, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA
2 Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA
3 Division of Pathology, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA
∗Reprint requests: Xin Si, MD, 770 Welch Rd, Suite 350, Palo Alto, CA 94304770 Welch RdSuite 350Palo AltoCA94304
Abstract |
ABCA3 deficiency is a rare cause of neonatal respiratory failure. Biallelic complete loss of function variants lead to neonatal demise without lung transplantation, but children with partial function variants have variable outcomes. The favorable clinical course of 3 such infants presenting with respiratory distress at birth is described.
Le texte complet de cet article est disponible en PDF.Keywords : surfactant deficiency, ABCA3, neonatal respiratory failure
Abbreviations : ABCA3, LFNC, CT
Plan
| Supported by NIH [5T32HL129970] to X.S and L.S.; Stanford Maternal Child Health and Research Institute Clinical Trainee Award to X.S and L.S.; and Cystic Fibrosis Clinical Fellowship Award to X.S. The authors declare no conflicts of interest. |
© 2020
Elsevier Inc. Tous droits réservés.
Vol 231
P. 278 - avril 2021 Retour au numéro
Article précédent
- Neurodevelopmental Outcomes after Premedication with Atropine/Propofol vs Atropine/Atracurium/Sufentanil for Neonatal Intubation: 2-Year Follow-Up of a Randomized Clinical Trial
- Manon Tauzin, Laetitia Marchand-Martin, Cécile Lebeaux, Sophie Breinig, Olivier Claris, Pierre Tourneux, Cénéric Alexandre, Corinne Levy, Camille Jung, Agnès Dechartres, Xavier Durrmeyer, PREmedication Trial for Tracheal Intubation of the NEOnate Research Group, Barcat Lucile, Boddaert Sophie, Caron-Lesenechal Evelyne, Carpentier Eléonore, Chazal Christèle, Delaunay Mickaël, Degorre Coralie, Fontaine Cécile, Ghyselen Laurent, Goudjil Sabrina, Kongolo Guy, Leke André, Moreau François, Moussa Yasser, Popov Isabelle, Ramadan GhostineGhida, Razafimanantsoa Lucie, Romeo Bernard, Tellai Leila, Adamon Latif, Alexandre Mélanie, Alix Antoine, Bellot Anne, Crosse Julien, Dorriere Valérie, Guillemin Marie-Gabrielle, Guillois Bernard, Leport Mathilde, Panici Maud, Pinto Da Costa Nathalina, Rots Delphine, Savey Baptiste, Trentesaux Anne-Sophie, Azcona Barbara, Bacher Marjorie, Boiron Emilie, Bourgoin Laura, Bouafif Firas, Brussieux Maxime, Caeymaex Laurence, Dahan Sonia, Danan Claude, Dassieu Gilles, Dassy Audrey, Decobert Fabrice, Henri Hélène, Jourdan Diane, Layouni Inès, Le Gouez Morgane, Merlot Elodie, Millot Estelle, Peluchon Anne, Ratsimbazafy Lanto, Renault Anais, Toure Judith, CRA, Vedrenne-Cloquet Meryl, Younes Bouthaina, An Chu Huu Kim, Beissel Anne, Bellemin Karine, Blanc Sébastien, Bouamari Hocine, Breant Valentine, Bruschet Lydie, Clamadieu Catherine, Cornaton Elise, Cottin Xavier, Cudel Muriel, Gauthier-Moulinier Hélène, Plaisant Franck, Prudon Malika, Arberet Camille, Beuchee Alain, Chauvel Jennifer, Delahaye Séverine, Deniau Anne-Laure, Gaillot Théophile, Lallemant Carine, Lamour Anne-Marie, Lebas Fanny, Noseda Céline, Ozanne Bruno, Pladys Patrick, Sauret Anne, Thomas de La Pintiere Armelle, Tirel Olivier, Bouissou Antoine, Cantagrel Sylvain, Chantreuil Julie, Decock-Giraudaud Aliette, Labarthe François, Meteier Véronique, Norbert Karine, Perez Thierry, Planchenault Déborah, Roullet Nicolas, Saliba Elie, Suc Anne-Laure, eToulouse: Alberge Corinne, Amadieu Romain, Auriol Françoise, Senior CRA, Berthomieu Lionel, Bloom Marie-Claude, Eyvrard Frédéric, Gineste Martine, Jurado Camille, Kieffer Isabelle, Lelong Sandrine, Marcoux Marie-Odile, Mus Marianne, Pelluau Sonia, Gaba Mabel, Issa Amelle, Lacour Sandrine, Bechet Stéphane, Boucherat Michel, Cohen Robert, Prieur Claire, Ramay Isabelle
- Macula as a Window to Diagnosis
- Thuppanattumadam Ananthasubramanian Sangeeth, Hansashree Padmanabha, Rashmi Santhosh-Kumar, Sadanandavalli R. Chandra, Debjyoti Dhar, Pooja Mailankody, Vani Santosh
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?