TY - JOUR
T1 - Evaluation and management of inherited disorders of surfactant metabolism
AU - Hamvas, Aaron
PY - 2010/10/20
Y1 - 2010/10/20
N2 - Objective 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). Data sources Review of the literature, previous work from the author's and collaborators' laboratories, St. Louis Children's Hospital Lung Transplant Database. Study selection Key articles in the field, author's work. Results 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, Conclusions Inherited disorders of surfactant metabolism are rare, but informative diseases that provide unique opportunities for understanding mechanisms of respiratory disease in newborns and children.
AB - Objective 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). Data sources Review of the literature, previous work from the author's and collaborators' laboratories, St. Louis Children's Hospital Lung Transplant Database. Study selection Key articles in the field, author's work. Results 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, Conclusions Inherited disorders of surfactant metabolism are rare, but informative diseases that provide unique opportunities for understanding mechanisms of respiratory disease in newborns and children.
KW - Genetics
KW - Lung transplantation
KW - Newborn
KW - Respiratory distress syndrome
UR - http://www.scopus.com/inward/record.url?scp=79952277287&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79952277287&partnerID=8YFLogxK
U2 - 10.3760/cma.j.issn.0366-6999.2010.20.035
DO - 10.3760/cma.j.issn.0366-6999.2010.20.035
M3 - Review article
C2 - 21034611
AN - SCOPUS:79952277287
SN - 0366-6999
VL - 123
SP - 2943
EP - 2947
JO - Chinese medical journal
JF - Chinese medical journal
IS - 20
ER -