Home > A. Molecular pathology > SFTPB
SFTPB
MIM.178640
Tuesday 6 September 2005
Pathology
SFTPB mutations in
- neonatal SP-B deficiency (early-onset pulmonary alveolar proteinosis)
- congenital pulmonary alveolar proteinosis (MIM.265120)
- association of congenital pulmonary alveolar proteinosis (MIM.265120) and misalignment of lung vessels (10378403)
- unexplained respiratory distress (URD)
See also
SP-B deficiency, complete or incomplete
pulmonary alveolar proteinosis (PAP)
- typical storage of PAS-positive material within the alveoli with foamy macrophages and variable interstitial reaction
References
Ikegami M, Whitsett JA, Martis PC, Weaver TE. Reversibility of lung inflammation caused by SP-B deficiency. Am J Physiol Lung Cell Mol Physiol. 2005 Dec;289(6):L962-70. PMID: 16024721
Tredano M, Griese M, de Blic J, Lorant T, Houdayer C, Schumacher S, Cartault F, Capron F, Boccon-Gibod L, Lacaze-Masmonteil T, Renolleau S, Delaisi B, Elion J, Couderc R, Bahuau M. Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB. Am J Med Genet A. 2003 Jun 15;119(3):324-39. PMID: 12784301
