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Surfactant metabolism dysfunction

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Title: Surfactant metabolism dysfunction  
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Subject: Progressive familial intrahepatic cholestasis, ABCD syndrome, Leukocyte adhesion deficiency-1, Hyper-IgM syndrome type 3, Familial hypocalciuric hypercalcemia
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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


  1. ^
  2. ^
  3. ^

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