Congenital alveolar proteinosis in the Netherlands: a report of five cases with immunohistochemical and genetic studies on surfactant apoproteins

Pediatr Pathol Lab Med. 1997 Mar-Apr;17(2):221-31.


Congenital alveolar proteinosis is a recently described cause of lung dysfunction and respiratory distress in term neonates. In several cases a deficiency or insufficiency of surfactant apoprotein B (SP-B) has been caused by a frameshift mutation in the gene encoding SP-B. Five full-term children in three unrelated families from The Netherlands are reported. Immunohistochemistry demonstrated large amounts of surfactant proteins A and C (SP-A and SP-C) and precursors in alveolar cells and in intra-alveolar material. Results were positive for antibovine SP-B antibody but negative for antipig SP-B1 antibody, most probably reflecting differences in the antibody specificity. The findings suggest abnormal SP-B function. In two sibs, no pre-SP-C was demonstrated in the alveoli, although it was found in considerable amounts in alveolar cells. One such case has previously been reported. In two families, the parents were heterozygous for the 121 ins 2 mutation in the SP-B gene. Our findings suggest that congenital alveolar proteinosis may result from abnormalities in one or more of the surfactant proteins.

Publication types

  • Case Reports

MeSH terms

  • Fatal Outcome
  • Female
  • Humans
  • Immunohistochemistry
  • Infant, Newborn
  • Lung / pathology
  • Lung Diseases / congenital*
  • Lung Diseases / genetics
  • Lung Diseases / metabolism
  • Lung Diseases / pathology*
  • Male
  • Polymorphism, Restriction Fragment Length
  • Proteolipids / genetics
  • Pulmonary Alveolar Proteinosis / congenital*
  • Pulmonary Alveolar Proteinosis / genetics
  • Pulmonary Alveolar Proteinosis / metabolism
  • Pulmonary Alveolar Proteinosis / pathology*
  • Pulmonary Surfactants / genetics*


  • Proteolipids
  • Pulmonary Surfactants