Living with Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
A rare genetic condition starting in infancy that affects the lungs and kidneys, and sometimes the skin and hair.
Understanding Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
It develops in the first months of life, with breathing trouble and a large amount of protein in the urine. It can lead to serious lung scarring (interstitial lung disease) and kidney problems. Some people also have skin blisters, nail changes, and sparse hair.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breathing difficulties
- Repeated lung infections
- Kidney problem with protein in the urine (nephrotic syndrome)
- Skin blisters
- Poorly formed nails
- Sparse hair, eyebrows, and eyelashes
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, kidney specialists, lung and breathing specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ITGA3 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
DEBRA of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists); Lung and breathing specialists (pulmonologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: DEBRA of America
- 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 DEBRA of America and other patient organizations
- 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 ITGA3 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: congenital ilneb (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome; congenital ilneb syndrome; congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome; congenital nep syndrome; congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome; congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome.
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