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. 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