Genetic causes of surfactant protein abnormalities

LM Nogee - Current opinion in pediatrics, 2019 - journals.lww.com
LM Nogee
Current opinion in pediatrics, 2019journals.lww.com
Genetic disorders of surfactant production are rare but associated with significant morbidity
and mortality. Diagnosis can be made invasively through clinically available genetic testing.
Improved treatment options are needed and better understanding of the molecular
pathophysiology may provide insights into treatments for other lung disorders causing
fibrosis.
Summary
Genetic disorders of surfactant production are rare but associated with significant morbidity and mortality. Diagnosis can be made invasively through clinically available genetic testing. Improved treatment options are needed and better understanding of the molecular pathophysiology may provide insights into treatments for other lung disorders causing fibrosis.
Lippincott Williams & Wilkins