Living with Surfactant metabolism dysfunction, pulmonary, 1
A rare genetic lung condition in newborns, with serious breathing trouble from too little lung surfactant.
Understanding Surfactant metabolism dysfunction, pulmonary, 1
Surfactant is a substance that keeps the lungs' air sacs open. In this condition there is too little, which is especially common in immature lungs. It is mainly seen in preterm babies but can also affect full-term newborns. A lung biopsy shows scarring, inflammation, and buildup of material in the air sacs, as in pulmonary alveolar proteinosis.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breathing trouble in newborns
- Fast breathing
- High blood pressure in lung vessels
- Changes in lung tissue
- Material building up in lung air sacs
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in SFTPB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Interstitial Lung Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Children's Interstitial Lung Disease Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Interstitial Lung Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SFTPB gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: interstitial lung disease due to sp-b dysfunction; interstitial lung disease due to surfactant protein b deficiency; interstitial lung disease, nonspecific, due to surfactant protein b deficiency; neonatal acute respiratory distress due to sp-b deficiency; neonatal acute respiratory distress due to surfactant protein b deficiency; pulmonary alveolar proteinosis, congenital, 1
Patient organizations
- Children's Interstitial Lung Disease FoundationSurfactant metabolism dysfunction, pulmonary, 1 · United States
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