Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.

Si, Xin; Steffes, Lea C; Schymick, Jennifer C; Hazard, Florette K; Tracy, Michael C; Cornfield, David N

Si, Xin; Steffes, Lea C; Schymick, Jennifer C; Hazard, Florette K; Tracy, Michael C; Cornfield, David N.

Afiliação

Si X; 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. Electronic address: cxsi@stanford.edu.
Steffes LC; 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.
Schymick JC; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA.
Hazard FK; Division of Pathology, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA.
Tracy MC; 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.
Cornfield DN; 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.

J Pediatr ; 231: 278-283.e2, 2021 04.

Article em En | MEDLINE | ID: mdl-33359301

ABSTRACT

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.

Assuntos

Transportadores de Cassetes de Ligação de ATP/deficiência; Transportadores de Cassetes de Ligação de ATP/genética; Síndrome do Desconforto Respiratório do Recém-Nascido/genética; Humanos; Recém-Nascido; Masculino; Mutação; Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico; Síndrome do Desconforto Respiratório do Recém-Nascido/terapia

Palavras-chave

ABCA3; neonatal respiratory failure; surfactant deficiency

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome do Desconforto Respiratório do Recém-Nascido / Transportadores de Cassetes de Ligação de ATP Tipo de estudo: Diagnostic_studies Limite: Humans / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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