Pulmonary surfactant protein B, deficiency of

Common Name(s)

Pulmonary surfactant protein B, deficiency of, Surfactant metabolism dysfunction, pulmonary, 1

Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) ({2:Clark and Clark, 2005}). A clinically similar disorder characterized by respiratory distress ({267450}) can affect preterm infants, who show developmental deficiency of surfactant. Acquired PAP ({610910}) is an autoimmune disorder characterized by the presence of autoantobodies to CSF2 ({138960}). Genetic Heterogeneity of Pulmonary Surfactant Metabolism Dysfunction See also SMDP2 ({610913}), caused by mutation in the SPTPC gene ({178620}) on 8p21; SMDP3 ({610921}), caused by mutation in the ABCA3 gene ({601615}) on 16p13; SMDP4 ({300770}), caused by mutation in the CSF2RA gene ({306250}) on Xp; and SMDP5 ({614370}), caused by mutation in the CSF2RB gene ({138981}) on 22q12.
 

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Epidemiology of Surfactant Protein-B Deficiency
 

Status: Recruiting

Condition Summary: Lung Diseases; Respiratory Distress Syndrome, Newborn; Pulmonary Surfactants

 

Last Updated: 19 Oct 2014

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