Surfactant metabolism dysfunction
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
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
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
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
- interstitial lung disease
- congenital hypothyroidism
- infant respiratory distress syndrome
- persistent pulmonary hypertension of the newborn
- pulmonary alveolar proteinosis
- respiratory care
References
- ↑ 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.
- ↑ 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.
- ↑ 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.