Surfactant metabolism dysfunction

Surfactant metabolism dysfunction
Other names	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

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

Cause

SFTPB mutations

Most disease-causing mutations in SFTPB result in a complete lack of mature SP-B protein Template:OMIM2. 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 Template:OMIM2 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 Template:OMIM2.

Diagnosis

Types

Type	OMIM	Gene	Locus
SMDP1	Template:OMIM2	SFTPB	2p12
SMDP2	Template:OMIM2	SPTPC	8p21
SMDP3	Template:OMIM2	ABCA3	16p13
SMDP4	Template:OMIM2	CSF2RA	Xp

See also

• Congenital hypothyroidism
• Infant respiratory distress syndrome
• Interstitial lung disease
• Persistent pulmonary hypertension of the newborn
• Pulmonary alveolar proteinosis
• Respiratory care

Further reading

• Reference, Genetics Home. "surfactant dysfunction". Genetics Home Reference. Retrieved 5 November 2017.