Evaluation and management of inherited disorders of surfactant metabolism / 中华医学杂志(英文版)
Chinese Medical Journal
; (24): 2943-2947, 2010.
Artículo
en Inglés
| WPRIM (Pacífico Occidental)
| ID: wpr-285806
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To review the pathophysiology, evaluation, management, and outcomes of children with inherited disorders of surfactant metabolism due to mutations in the genes encoding surfactant proteins-B or -C (SFTPB, SFTPC), ATP binding cassette member A3 (ABCA3), and thyroid transcription factor (NKX2.1).</p><p><b>DATA SOURCES</b>Review of the literature, previous work from the author's and collaborators' laboratories, St. Louis Children's Hospital Lung Transplant Database.</p><p><b>STUDY SELECTION</b>Key articles in the field, author's work.</p><p><b>RESULTS</b>Inherited disorders of surfactant metabolism present as acute, severe respiratory dysfunction in the neonatal period (SFTPB, ABCA3, NKX2.1) or as chronic respiratory insufficiency in later infancy and childhood which is of variable onset, severity, and course (SFTPC, ABCA3, NKX2.1). Diagnosis is established with sequencing the relevant genes; lung biopsy with electron microscopy is a useful adjunct. For surfactant protein-B and ABCA3 deficiency presenting with acute neonatal disease, treatment options are limited to lung transplantation or compassionate care. For the more chronic presentations of surfactant protein-C, ABCA3, and NKX2.1 associated disease, the natural history is variable and therefore individualized, supportive care is appropriate,</p><p><b>CONCLUSIONS</b>Inherited disorders of surfactant metabolism are rare, but informative diseases that provide unique opportunities for understanding mechanisms of respiratory disease in newborns and children.</p>
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Asunto principal:
Terapéutica
/
Surfactantes Pulmonares
/
Trasplante de Pulmón
/
Transportadoras de Casetes de Unión a ATP
/
Proteína B Asociada a Surfactante Pulmonar
/
Proteína C Asociada a Surfactante Pulmonar
/
Diagnóstico
/
Genética
/
Enfermedades Pulmonares
/
Metabolismo
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
/
Recién nacido
Idioma:
Inglés
Revista:
Chinese Medical Journal
Año:
2010
Tipo del documento:
Artículo