Your browser doesn't support javascript.
loading
Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.
López-Andreu, Juan A; Hidalgo-Santos, Antonio D; Fuentes-Castelló, Miguel A; Mancheño-Franch, Nuria; Cerón-Pérez, Juan A; Esteban-Ricós, Maria J; Pedrola-Vidal, Laia; Nogee, Lawrence M.
Affiliation
  • López-Andreu JA; Pediatric Respiratory and Allergy Section, University and Polytechnic Hospital La Fe, Valencia, Spain. Electronic address: lopez_jal@gva.es.
  • Hidalgo-Santos AD; Pediatric Respiratory and Allergy Section, University and Polytechnic Hospital La Fe, Valencia, Spain.
  • Fuentes-Castelló MA; Department of Pediatrics, University Hospital Elx, Alicante, Spain.
  • Mancheño-Franch N; Department of Pathology, University and Polytechnic Hospital La Fe, Valencia, Spain.
  • Cerón-Pérez JA; Department of Clinical Genetics, University and Polytechnic Hospital La Fe, Valencia, Spain.
  • Esteban-Ricós MJ; Section of Pediatric Radiology, University and Polytechnic Hospital La Fe, Valencia, Spain.
  • Pedrola-Vidal L; Department of Clinical Genetics, University and Polytechnic Hospital La Fe, Valencia, Spain.
  • Nogee LM; Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University, Baltimore, MD.
J Pediatr ; 190: 268-270.e1, 2017 11.
Article in En | MEDLINE | ID: mdl-28888561
ABSTRACT
Surfactant protein B encoding gene mutations have been related to early onset fatal respiratory distress in full-term neonates. We report a school-aged male child homozygous for a surfactant protein B encoding gene missense mutation who presented after the neonatal period. His respiratory insufficiency responded to high dose intravenous methylprednisolone and hydroxychloroquine.
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pulmonary Alveolar Proteinosis / Pulmonary Surfactant-Associated Protein B / Delayed Diagnosis Type of study: Diagnostic_studies Limits: Child / Humans / Male Language: En Journal: J Pediatr Year: 2017 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pulmonary Alveolar Proteinosis / Pulmonary Surfactant-Associated Protein B / Delayed Diagnosis Type of study: Diagnostic_studies Limits: Child / Humans / Male Language: En Journal: J Pediatr Year: 2017 Type: Article