Overview
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome is an extremely rare genetic condition that affects multiple organ systems at the same time. This syndrome combines three major problems: interstitial lung disease (where the tissue around the air sacs in the lungs becomes scarred and stiff, making it hard to breathe), nephrotic syndrome (a kidney problem where the body loses too much protein through the urine, causing swelling and other complications), and epidermolysis bullosa (a condition where the skin is very fragile and blisters easily with minor friction or trauma). This combination of lung, kidney, and skin problems is caused by mutations in the ITGA3 gene, which provides instructions for making a protein called integrin alpha-3. This protein plays a critical role in helping cells attach to each other and to the surrounding tissue structure in the lungs, kidneys, and skin. Because the disease affects vital organs from a very early age, it is considered a serious and life-threatening condition. Treatment is mainly supportive, focusing on managing symptoms in each affected organ system. Unfortunately, there is currently no cure, and the prognosis is generally poor, with most affected children experiencing severe complications in infancy.
Also known as:
Key symptoms:
Difficulty breathing or rapid breathingChronic coughLow oxygen levels in the bloodFragile skin that blisters easilySkin wounds that heal slowlySwelling in the body, especially around the eyes and legsProtein in the urinePoor weight gain and failure to thriveFrequent lung infectionsNail abnormalities or nail lossKidney dysfunctionScarring of lung tissueFeeding difficulties
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
1 availableOfev
Treatment of chronic fibrosing interstitial lung diseases (ILDs) with a progressive phenotype
Clinical Trials
View all trials with filters →No actively recruiting trials found for Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's lung, kidney, and skin involvement right now?,What monitoring and tests will be needed on a regular basis?,What are the signs that my child's condition is getting worse and when should I seek emergency care?,Are there any treatments that can slow down the progression of the lung or kidney disease?,What is the best way to care for my child's skin at home to prevent blistering?,Is genetic counseling available for our family regarding future pregnancies?,Are there any research studies or clinical trials that my child might be eligible for?
Common questions about Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
What is Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome?
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome is an extremely rare genetic condition that affects multiple organ systems at the same time. This syndrome combines three major problems: interstitial lung disease (where the tissue around the air sacs in the lungs becomes scarred and stiff, making it hard to breathe), nephrotic syndrome (a kidney problem where the body loses too much protein through the urine, causing swelling and other complications), and epidermolysis bullosa (a condition where the skin is very fragile and blisters easily with minor friction or trau
How is Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome inherited?
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome typically begin?
Typical onset of Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome is neonatal. Age of onset can vary across affected individuals.