Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency

Juan A. López-Andreu; Antonio D. Hidalgo-Santos; Miguel A. Fuentes-Castelló; Nuria Mancheño-Franch; Juan A. Cerón-Pérez; Maria J. Esteban-Ricós; Laia Pedrola-Vidal; Lawrence M. Nogee

doi:10.1016/j.jpeds.2017.07.009

Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency

Juan A. López-Andreu, Antonio D. Hidalgo-Santos, Miguel A. Fuentes-Castelló, Nuria Mancheño-Franch, Juan A. Cerón-Pérez, Maria J. Esteban-Ricós, Laia Pedrola-Vidal, Lawrence M. Nogee

School of Medicine

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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.

Original language	English (US)
Pages (from-to)	268-270.e1
Journal	Journal of Pediatrics
Volume	190
DOIs	https://doi.org/10.1016/j.jpeds.2017.07.009
State	Published - Nov 2017

Keywords

SFTPB mutation
SP-B deficiency
case report
child
corticosteroids

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2017.07.009

Cite this

@article{179743ddc41f4366acbd5e68ff52bc9f,

title = "Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency",

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.",

keywords = "SFTPB mutation, SP-B deficiency, case report, child, corticosteroids",

author = "L{\'o}pez-Andreu, {Juan A.} and Hidalgo-Santos, {Antonio D.} and Fuentes-Castell{\'o}, {Miguel A.} and Nuria Manche{\~n}o-Franch and Cer{\'o}n-P{\'e}rez, {Juan A.} and Esteban-Ric{\'o}s, {Maria J.} and Laia Pedrola-Vidal and Nogee, {Lawrence M.}",

note = "Publisher Copyright: {\textcopyright} 2017 Elsevier Inc.",

year = "2017",

month = nov,

doi = "10.1016/j.jpeds.2017.07.009",

language = "English (US)",

volume = "190",

pages = "268--270.e1",

journal = "Journal of Pediatrics",

issn = "0022-3476",

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T1 - Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency

AU - López-Andreu, Juan A.

AU - Hidalgo-Santos, Antonio D.

AU - Fuentes-Castelló, Miguel A.

AU - Mancheño-Franch, Nuria

AU - Cerón-Pérez, Juan A.

AU - Esteban-Ricós, Maria J.

AU - Pedrola-Vidal, Laia

AU - Nogee, Lawrence M.

PY - 2017/11

Y1 - 2017/11

N2 - 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.

AB - 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.

KW - SFTPB mutation

KW - SP-B deficiency

KW - case report

KW - child

KW - corticosteroids

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UR - http://www.scopus.com/inward/citedby.url?scp=85028775667&partnerID=8YFLogxK

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DO - 10.1016/j.jpeds.2017.07.009

M3 - Article

C2 - 28888561

AN - SCOPUS:85028775667

SN - 0022-3476

VL - 190

SP - 268-270.e1

JO - Journal of Pediatrics

JF - Journal of Pediatrics

ER -

Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency

Abstract

Keywords

ASJC Scopus subject areas

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