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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
Inborn errors of surfactant metabolism
Genetic surfactant disorders
Definitions
Group of rare lung diseases caused by mutations/deletions of genes affecting surfactant homeostasis
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
Whitsett JA et al: Diseases of pulmonary surfactant homeostasis. Annu Rev Pathol. 10:371-93, 2015
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
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
Guillerman RP et al: Contemporary perspectives on pediatric diffuse lung disease. Radiol Clin North Am. 49(5):847-68, 2011
Dishop MK: Diagnostic pathology of diffuse lung disease in children. Pediatr Allergy Immunol Pulmonol. 23(1):69-85, 2010
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
Whitsett JA et al: Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease. Annu Rev Med. 61:105-19, 2010
Wert SE et al: Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 12(4):253-74, 2009
Doan ML et al: Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax. 63(4):366-73, 2008
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
Hamvas A: Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin Perinatol. 30(6):316-26, 2006
Olsen E ØE et al: Chronic pneumonitis of infancy: high-resolution CT findings. Pediatr Radiol. 34(1):86-8, 2004
Trapnell BC et al: Pulmonary alveolar proteinosis. N Engl J Med. 349(26):2527-39, 2003
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
Whitsett JA et al: Hydrophobic surfactant proteins in lung function and disease. N Engl J Med. 347(26):2141-8, 2002
Newman B et al: Congenital surfactant protein B deficiency--emphasis on imaging. Pediatr Radiol. 31(5):327-31, 2001
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
Klein JM et al: Transient surfactant protein B deficiency in a term infant with severe respiratory failure. J Pediatr. 132(2):244-8, 1998
Ballard PL et al: Partial deficiency of surfactant protein B in an infant with chronic lung disease. Pediatrics. 96(6):1046-52, 1995
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
Lung Transplantation for Inherited Disorders of Surfactant Metabolism
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
Inborn errors of surfactant metabolism
Genetic surfactant disorders
Definitions
Group of rare lung diseases caused by mutations/deletions of genes affecting surfactant homeostasis
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
Whitsett JA et al: Diseases of pulmonary surfactant homeostasis. Annu Rev Pathol. 10:371-93, 2015
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
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
Guillerman RP et al: Contemporary perspectives on pediatric diffuse lung disease. Radiol Clin North Am. 49(5):847-68, 2011
Dishop MK: Diagnostic pathology of diffuse lung disease in children. Pediatr Allergy Immunol Pulmonol. 23(1):69-85, 2010
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
Whitsett JA et al: Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease. Annu Rev Med. 61:105-19, 2010
Wert SE et al: Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 12(4):253-74, 2009
Doan ML et al: Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax. 63(4):366-73, 2008
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
Hamvas A: Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin Perinatol. 30(6):316-26, 2006
Olsen E ØE et al: Chronic pneumonitis of infancy: high-resolution CT findings. Pediatr Radiol. 34(1):86-8, 2004
Trapnell BC et al: Pulmonary alveolar proteinosis. N Engl J Med. 349(26):2527-39, 2003
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
Whitsett JA et al: Hydrophobic surfactant proteins in lung function and disease. N Engl J Med. 347(26):2141-8, 2002
Newman B et al: Congenital surfactant protein B deficiency--emphasis on imaging. Pediatr Radiol. 31(5):327-31, 2001
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
Klein JM et al: Transient surfactant protein B deficiency in a term infant with severe respiratory failure. J Pediatr. 132(2):244-8, 1998
Ballard PL et al: Partial deficiency of surfactant protein B in an infant with chronic lung disease. Pediatrics. 96(6):1046-52, 1995
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
Lung Transplantation for Inherited Disorders of Surfactant Metabolism
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