Living with Interstitial lung disease due to ABCA3 deficiency
A rare genetic lung disease from newborn breathing trouble to long-term lung disease in childhood.
Understanding Interstitial lung disease due to ABCA3 deficiency
It can range from newborn respiratory distress to chronic interstitial lung disease in infancy or childhood. This includes long-lasting cough, fast breathing, shortness of breath, and repeated lung infections. Signs of breathing trouble include grunting, flaring nostrils, and bluish skin.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breathing distress in newborns
- Long-lasting cough
- Fast breathing and shortness of breath
- Repeated lung infections
- Honeycomb-like changes in the lungs on scans
- Thickened airway walls
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 ABCA3 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 ABCA3 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: abca3-related pulmonary surfactant metabolism dysfunction; interstitial lung disease due to abca3 (atp-binding cassette subfamily a member 3) deficiency; interstitial lung disease due to atp-binding cassette subfamily a member 3 deficiency; pulmonary alveolar proteinosis, congenital, 3; surfactant metabolism dysfunction, pulmonary, type 3
Patient organizations
- Children's Interstitial Lung Disease FoundationInterstitial lung disease due to ABCA3 deficiency · United States
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