Diagnostic algorithms for standard situations*

* All tests are availble in the frame work of the register


Neonate, mature, unclear RDS, radiological diffuse parenchymal lung disease

Genetics for SFTPB, SFTPC, ABCA3*, TTF1
Biochemical analysis of BAL, obtained before exogenous, for hydrophobic surfactant proteins
        * if SFTPB and SFTPC negative, continued clinical symptoms
Histology with specific staining for SP-B, pro-SP-B, pro-SP-C, TTF1, ABCA3 and others


Infant, toddler, child, adolescent, adult with suspected chronic diffuse parenchymal lung disease

Biochemical analysis of BAL for hydrophobic surfactant proteins
Cytopreps stained for PAS, Fe, LLM, MGG
Genetics for SFTPC, ABCA3*, TTF1, SFTPA2**, Telomerase** 
        * if SFTPB and SFTPC negative, continued clinical symptoms ** currently only research
Histology with specific staining for SP-B, pro-SP-B, pro-SP-C, TTF1, ABCA3 and others

Infant, toddler with suspected chronic tachypnoe of infancy

Biochemical analysis of BAL for hydrophobic surfactant proteins
Urine for Bombesine
Cytopreps stained for PAS, Fe, LLM, MGG

Genetics for SFTPC, ggf ABCA3, TTF1 
Histology with specific staining for bombesine, SP-B, pro-SP-B, pro-SP-C, TTF1, ABCA3 and others
  

Neonate, infant, toddler, child, adolescent, adult with suspected alveolar proteinosis

Analysis of serum for anti-GMCSF autoantibodies and GMCSF level, serum and urine for aminoacid profile
BAL-cytopreps stained for PAS, Fe, LLM, MGG

Biochemical analysis of BAL for hydrophobic surfactant proteins, anti-GMCSF autoantibodies and GMCSF level

Genetics for GMCSF-Ra, GMCSF-Rb, SFTPC, NPC2, lysinuric proteinuria, other candidates

Histology with specific staining for SP-A, SP-B, pro-SP-B, pro-SP-C, TTF1, ABCA3 and others

Follow up: serum level of SP-D, LDH