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Surfactant Dysfunction Disorders
Mantosh S. Rattan, MD; Randy R. Richardson, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Primary surfactant deficiency
              • Inborn errors of surfactant metabolism
              • Genetic surfactant disorders
            • Definitions

              • Group of rare lung diseases caused by mutations/deletions of genes affecting surfactant homeostasis
                • Differs from prematurity-related surfactant deficiency & secondary surfactant deficiency
              • Most frequent surfactant dysfunction disorders
                • Surfactant protein B (SP-B): SFTPB gene
                • Surfactant protein C (SP-C): SFTPC gene
                • ATP-binding cassette transporter A3 (ABCA3): ABCA3 gene
                • Receptors for GM-CSF: CSF2RA, CSF2RB genes
                  • Congenital alveolar proteinosis
                • Thyroid transcription factor: TTF1/NKX2-1 genes
                  • Brain-lung-thyroid syndrome
              • Pulmonary alveolar proteinosis of adults & older children
                • GM-CSF autoantibodies
                  • Most common cause of sporadic pulmonary alveolar proteinosis in adults
                • Alveolar macrophage dysfunction
                  • Immunosuppression (HIV)
                  • Leukemia
                  • Hematopoietic or solid organ transplant
                  • Autoimmune disorders
                  • Toxic exposures

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Microscopic Features

                        CLINICAL ISSUES

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Consider

                              • Image Interpretation Pearls

                                Selected References

                                1. Wu M et al: Childhood interstitial lung disease: a case-based review of the imaging findings. Ann Thorac Med. 16(1):64-72, 2021
                                2. LeMoine BD et al: High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations). Pediatr Radiol. 49(7):869-75, 2019
                                3. Toma P et al: CT features of diffuse lung disease in infancy. Radiol Med. 123(8):577-85, 2018
                                4. Gupta A et al: Genetic disorders of surfactant protein dysfunction: when to consider and how to investigate. Arch Dis Child. 102(1):84-90, 2017
                                5. Nogee LM: Interstitial lung disease in newborns. Semin Fetal Neonatal Med. 22(4):227-33, 2017
                                6. Whitsett JA et al: Diseases of pulmonary surfactant homeostasis. Annu Rev Pathol. 10:371-93, 2015
                                7. Avital A et al: Natural history of five children with surfactant protein C mutations and interstitial lung disease. Pediatr Pulmonol. 49(11):1097-105, 2014
                                8. Kurland G et al: An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med. 188(3):376-94, 2013
                                9. Guillerman RP et al: Contemporary perspectives on pediatric diffuse lung disease. Radiol Clin North Am. 49(5):847-68, 2011
                                10. Dishop MK: Diagnostic pathology of diffuse lung disease in children. Pediatr Allergy Immunol Pulmonol. 23(1):69-85, 2010
                                11. Mechri M et al: Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis. Pediatr Pulmonol. 45(10):1021-9, 2010
                                12. Whitsett JA et al: Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease. Annu Rev Med. 61:105-19, 2010
                                13. Wert SE et al: Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 12(4):253-74, 2009
                                14. Doan ML et al: Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax. 63(4):366-73, 2008
                                15. Faro A et al: Lung transplantation for inherited disorders of surfactant metabolism. NeoReviews. 9(10) e468-76, 2008
                                16. Bridges JP et al: Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C. J Cell Biol. 172(3):395-407, 2006
                                17. Hamvas A: Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin Perinatol. 30(6):316-26, 2006
                                18. Olsen E ØE et al: Chronic pneumonitis of infancy: high-resolution CT findings. Pediatr Radiol. 34(1):86-8, 2004
                                19. Trapnell BC et al: Pulmonary alveolar proteinosis. N Engl J Med. 349(26):2527-39, 2003
                                20. Thomas AQ et al: Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med. 165(9):1322-8, 2002
                                21. Whitsett JA et al: Hydrophobic surfactant proteins in lung function and disease. N Engl J Med. 347(26):2141-8, 2002
                                22. Newman B et al: Congenital surfactant protein B deficiency--emphasis on imaging. Pediatr Radiol. 31(5):327-31, 2001
                                23. Dunbar AE 3rd et al: Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation. Pediatr Res. 48(3):275-82, 2000
                                24. Klein JM et al: Transient surfactant protein B deficiency in a term infant with severe respiratory failure. J Pediatr. 132(2):244-8, 1998
                                25. Ballard PL et al: Partial deficiency of surfactant protein B in an infant with chronic lung disease. Pediatrics. 96(6):1046-52, 1995
                                26. AVERY ME et al: Surface properties in relation to atelectasis and hyaline membrane disease. AMA J Dis Child. 97(5, Part 1):517-23, 1959
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Pathology

                                        • Clinical Issues

                                          TERMINOLOGY

                                          • Synonyms

                                            • Primary surfactant deficiency
                                            • Inborn errors of surfactant metabolism
                                            • Genetic surfactant disorders
                                          • Definitions

                                            • Group of rare lung diseases caused by mutations/deletions of genes affecting surfactant homeostasis
                                              • Differs from prematurity-related surfactant deficiency & secondary surfactant deficiency
                                            • Most frequent surfactant dysfunction disorders
                                              • Surfactant protein B (SP-B): SFTPB gene
                                              • Surfactant protein C (SP-C): SFTPC gene
                                              • ATP-binding cassette transporter A3 (ABCA3): ABCA3 gene
                                              • Receptors for GM-CSF: CSF2RA, CSF2RB genes
                                                • Congenital alveolar proteinosis
                                              • Thyroid transcription factor: TTF1/NKX2-1 genes
                                                • Brain-lung-thyroid syndrome
                                            • Pulmonary alveolar proteinosis of adults & older children
                                              • GM-CSF autoantibodies
                                                • Most common cause of sporadic pulmonary alveolar proteinosis in adults
                                              • Alveolar macrophage dysfunction
                                                • Immunosuppression (HIV)
                                                • Leukemia
                                                • Hematopoietic or solid organ transplant
                                                • Autoimmune disorders
                                                • Toxic exposures

                                          IMAGING

                                          • General Features

                                            • Radiographic Findings

                                              • CT Findings

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    • Microscopic Features

                                                      CLINICAL ISSUES

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          DIAGNOSTIC CHECKLIST

                                                          • Consider

                                                            • Image Interpretation Pearls

                                                              Selected References

                                                              1. Wu M et al: Childhood interstitial lung disease: a case-based review of the imaging findings. Ann Thorac Med. 16(1):64-72, 2021
                                                              2. LeMoine BD et al: High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations). Pediatr Radiol. 49(7):869-75, 2019
                                                              3. Toma P et al: CT features of diffuse lung disease in infancy. Radiol Med. 123(8):577-85, 2018
                                                              4. Gupta A et al: Genetic disorders of surfactant protein dysfunction: when to consider and how to investigate. Arch Dis Child. 102(1):84-90, 2017
                                                              5. Nogee LM: Interstitial lung disease in newborns. Semin Fetal Neonatal Med. 22(4):227-33, 2017
                                                              6. Whitsett JA et al: Diseases of pulmonary surfactant homeostasis. Annu Rev Pathol. 10:371-93, 2015
                                                              7. Avital A et al: Natural history of five children with surfactant protein C mutations and interstitial lung disease. Pediatr Pulmonol. 49(11):1097-105, 2014
                                                              8. Kurland G et al: An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med. 188(3):376-94, 2013
                                                              9. Guillerman RP et al: Contemporary perspectives on pediatric diffuse lung disease. Radiol Clin North Am. 49(5):847-68, 2011
                                                              10. Dishop MK: Diagnostic pathology of diffuse lung disease in children. Pediatr Allergy Immunol Pulmonol. 23(1):69-85, 2010
                                                              11. Mechri M et al: Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis. Pediatr Pulmonol. 45(10):1021-9, 2010
                                                              12. Whitsett JA et al: Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease. Annu Rev Med. 61:105-19, 2010
                                                              13. Wert SE et al: Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 12(4):253-74, 2009
                                                              14. Doan ML et al: Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax. 63(4):366-73, 2008
                                                              15. Faro A et al: Lung transplantation for inherited disorders of surfactant metabolism. NeoReviews. 9(10) e468-76, 2008
                                                              16. Bridges JP et al: Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C. J Cell Biol. 172(3):395-407, 2006
                                                              17. Hamvas A: Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin Perinatol. 30(6):316-26, 2006
                                                              18. Olsen E ØE et al: Chronic pneumonitis of infancy: high-resolution CT findings. Pediatr Radiol. 34(1):86-8, 2004
                                                              19. Trapnell BC et al: Pulmonary alveolar proteinosis. N Engl J Med. 349(26):2527-39, 2003
                                                              20. Thomas AQ et al: Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med. 165(9):1322-8, 2002
                                                              21. Whitsett JA et al: Hydrophobic surfactant proteins in lung function and disease. N Engl J Med. 347(26):2141-8, 2002
                                                              22. Newman B et al: Congenital surfactant protein B deficiency--emphasis on imaging. Pediatr Radiol. 31(5):327-31, 2001
                                                              23. Dunbar AE 3rd et al: Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation. Pediatr Res. 48(3):275-82, 2000
                                                              24. Klein JM et al: Transient surfactant protein B deficiency in a term infant with severe respiratory failure. J Pediatr. 132(2):244-8, 1998
                                                              25. Ballard PL et al: Partial deficiency of surfactant protein B in an infant with chronic lung disease. Pediatrics. 96(6):1046-52, 1995
                                                              26. AVERY ME et al: Surface properties in relation to atelectasis and hyaline membrane disease. AMA J Dis Child. 97(5, Part 1):517-23, 1959