Surfactant metabolism dysfunction

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Surfactant metabolism dysfunction is a condition where pulmonary surfactant is insufficient for adequate respiration.

Types include:

Type OMIM Gene Locus
SMDP1 265120 SFTPB 2p12
SMDP2 610913 SPTPC 8p21
SMDP3 610921 ABCA3 16p13
SMDP4 300770 CSF2RA Xp

SFTPB mutations[edit]

Most disease-causing mutations in SFTPB result in a complete lack of mature SP-B protein 265120. Lung disease is inherited in an autosomal recessive manner, requiring mutations in both alleles. Surfactant produced by infants with SP-B deficiency is abnormal in composition and does not function normally in lowering surface tension.

SFTPC mutations[edit]

Familial cases of SP-C dysfunction 610913 are inherited in an autosomal dominant pattern, although the onset and severity of lung disease are highly variable, even within the same family.

ABCA3 mutations[edit]

Mutations in ABCA3 appear to be the most common cause of genetic surfactant dysfunction in humans.[1][2][3] The mutations result in a loss of or reduced function of the ABCA3 protein, and are inherited in an autosomal recessive manner 610921.

See also[edit]

References[edit]

  1. ^ Brasch, F; Griese, M; Tredano, M; Johnen, G; Ochs, M; Rieger, C; Mulugeta, S; Müller, KM; Bahuau, M; Beers, MF (Jul 2004). "Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.". The European respiratory journal 24 (1): 30–9. doi:10.1183/09031936.04.00000104. PMID 15293602. 
  2. ^ Shulenin, S; Nogee, LM; Annilo, T; Wert, SE; Whitsett, JA; Dean, M (Mar 25, 2004). "ABCA3 gene mutations in newborns with fatal surfactant deficiency.". The New England Journal of Medicine 350 (13): 1296–303. doi:10.1056/NEJMoa032178. PMID 15044640. 
  3. ^ Somaschini, M; Nogee, LM; Sassi, I; Danhaive, O; Presi, S; Boldrini, R; Montrasio, C; Ferrari, M; Wert, SE; Carrera, P (Jun 2007). "Unexplained neonatal respiratory distress due to congenital surfactant deficiency.". The Journal of pediatrics 150 (6): 649–53, 653.e1. doi:10.1016/j.jpeds.2007.03.008. PMID 17517255.