SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1

Question 1

What is  SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1?

Accepted Answer

rare
autosomal recessive (congenital form)
mutation in the gene encoding surfactant protein B (SFTPB)
2 forms of pulmonary alveolar proteinosis:
- congenital alveolar proteinosis (term newborns)
- adult form of alveolar proteinosis

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Akute neonatale Atemnot durch SP-B-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 265120

Question 4

Which enzymes are involved?

Accepted Answer

Pulmonary surfactant-associated protein B

Disease	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1
Synonym	PULMONARY ALVEOLAR PROTEINOSIS; CONGENITAL ALVEOLAR PROTEINOSIS
OMIM	265120 OMIM = Online Mendelian Inheritance of Men
Orphanet	217563
Protein (UniProt)	Pulmonary surfactant-associated protein B
Gene locus	2p11.2
ICD	P28.0
Summary	rare autosomal recessive (congenital form) mutation in the gene encoding surfactant protein B (SFTPB) 2 forms of pulmonary alveolar proteinosis: - congenital alveolar proteinosis (term newborns) - adult form of alveolar proteinosis
Laboratory findings	pCO2 inc (blood) pH dec (blood)
Symptoms	early death failure to thrive onset, neonatal respiratory acidosis respiratory distress respiratory insufficiency tachypnea, hyperpnea, dyspnea, hyperventilation