Defects in surfactant synthesis: Clinical implications

被引:7
作者
Cole, F. Sessions
Nogee, Lawrence M.
Hamvas, Aaron
机构
[1] Washington Univ, Sch Med, Div Newborn Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA
[2] Johns Hopkins Univ, Sch Med, Dept Pediat, Div Neonatol, Baltimore, MD 21287 USA
关键词
D O I
10.1016/j.pcl.2006.08.006
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Since the original description of deficiency of the pulmonary surfactant in premature newborn infants by Avery and Mead in 1959, respiratory distress syndrome has most commonly been attributed to developmental immaturity of surfactant production. Studies of different ethnic groups, gender, targeted gene ablation in murine lineages, and recent clinical reports of monogenic causes of neonatal respiratory distress syndrome have demonstrated that genetic defects disrupt pulmonary surfactant metabolism and cause respiratory distress syndrome, especially in term or nearterm infants and in older infants, children, and adults. In contrast to developmental causes of respiratory distress, which may improve as infants and children mature, genetic causes result in both acute and chronic (and potentially irreversible) respiratory failure.
引用
收藏
页码:911 / +
页数:18
相关论文
共 116 条
[21]   Surfactant protein B: unambiguously necessary for adult pulmonary function [J].
Cole, FS .
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY, 2003, 285 (03) :L540-L542
[22]   Genetic disorders of neonatal respiratory function [J].
Cole, FS ;
Hamvas, A ;
Nogee, LM .
PEDIATRIC RESEARCH, 2001, 50 (02) :157-162
[23]   Population-based estimates of surfactant protein B deficiency [J].
Cole, FS ;
Hamvas, A ;
Rubinstein, P ;
King, E ;
Trusgnich, M ;
Nogee, LM ;
deMello, DE ;
Colten, HR .
PEDIATRICS, 2000, 105 (03) :538-541
[24]  
Dean M, 2001, J LIPID RES, V42, P1007
[25]   Surfactant dysfunction mutations in children's interstitial lung disease and beyond [J].
Deterding, R ;
Fan, LL .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2005, 172 (08) :940-941
[26]   Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation [J].
Dunbar, AE ;
Wert, SE ;
Ikegami, M ;
Whitsett, JA ;
Hamvas, A ;
White, FV ;
Piedboeuf, B ;
Jobin, C ;
Guttentag, S ;
Nogee, LM .
PEDIATRIC RESEARCH, 2000, 48 (03) :275-282
[27]  
Evans M, 1998, AM J EPIDEMIOL, V148, P460
[28]  
Finer Neil N, 2004, Paediatr Respir Rev, V5 Suppl A, pS289, DOI 10.1016/S1526-0542(04)90053-X
[29]   DINUCLEOTIDE REPEATS IN THE HUMAN SURFACTANT PROTEIN-B GENE AND RESPIRATORY-DISTRESS SYNDROME [J].
FLOROS, J ;
VELETZA, SV ;
KOTIKALAPUDI, P ;
KRIZKOVA, L ;
KARINCH, AM ;
FRIEDMAN, C ;
BUCHTER, S ;
MARKS, K .
BIOCHEMICAL JOURNAL, 1995, 305 :583-590
[30]   Human SP-A locus: Allele frequencies and linkage disequilibrium between the two surfactant protein A genes [J].
Floros, J ;
DiAngelo, S ;
Koptides, M ;
Karinch, AM ;
Rogan, PK ;
Nielsen, H ;
Spragg, RG ;
Watterberg, K ;
Deiter, G .
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 1996, 15 (04) :489-498