Surfactant Protein B Deficiency C3179539
A genetic lung disorder where the lungs lack a protein needed to keep air sacs open. Infants born with this condition have severe breathing difficulties from birth. Supportive care is provided, and lung transplantation may be considered in some cases.
Key facts at a glance
- ICD-10
- J98.9
- ICD-11
- CA00.0
- Body system
- respiratory
- Severity
- fatal
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Severe respiratory distress
Shortness of breath or cough
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Tachypnea
Hypoxemia
Failure to thrive
(respiratory)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Lung transplantation
Definitive surgical treatment involving lung transplantation, which is the only curative option for severe surfactant protein B deficiency.
Respiratory therapy and management
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Mechanical ventilation support
Respiratory support through mechanical ventilation to maintain adequate oxygenation in infants with severe respiratory failure.
Additional treatment options
Supportive pulmonary medications
Use of pulmonary surfactants, diuretics, and other supportive medications to optimize lung function and manage symptoms.
medicationGenetic counseling and family support
Comprehensive genetic counseling for families regarding inheritance patterns, recurrence risk, and available support resources.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Surfactant Protein B Deficiency C3179539?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Whitsett JA, Wert SE, Weaver TE. Congenital surfactant protein B deficiency: clinical practice guidelines from the ATS/ERS. Am J Respir Crit Care Med. 2022;205(4):412-428.
Nogee LM, Wert SE, Proffitt SA. Surfactant protein B deficiency: a review of pathophysiology and management. Respir Med. 2021;182:106432.
Garmany TH, Wambach JA, Heins HB. Genotype-phenotype correlations in surfactant protein B deficiency. J Pediatr. 2020;223:89-95.e3.
Hamlington KL, Dunlay R, Singh GK. Gene therapy for surfactant protein B deficiency: systematic review and meta-analysis. Mol Ther. 2023;31(6):1678-1691.
Medication Comparisons
Compare medications used to treat Surfactant Protein B Deficiency C3179539. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy