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.
El texto completo de este artículo está disponible en PDF.Keywords : surfactant deficiency, ABCA3, neonatal respiratory failure
Abbreviations : ABCA3, LFNC, CT
Esquema
| 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. Reservados todos los derechos.
Vol 231
P. 278 - avril 2021 Regresar al número
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