UNC Children’s Hospital is home to a world-class clinical and research program in rare and genetic lung diseases affecting children. Our physicians are helping local pediatricians and families throughout North Carolina and the Southeast evaluate and treat children at risk for these conditions. Managing the care for children with these chronic conditions can be difficult for families. Our physicians and care-team specialize in family-centered care that supports and works with families at every step. If your primary care physician or another doctor suspects that your child may have a rare or genetic lung disease or a related condition, you can trust that the UNC Children’s Rare and Genetic Lung Disease team will work to provide your family with an expert diagnosis and treatment plan. This program is the only one of its kind in North Carolina and in the coastal southeastern United States.

Our Mission

Our goal is to foster innovation and collaboration to identify, understand, and cure rare and interstitial lung disorders by synergizing the strengths of clinicians, scientists, patients, and families along with deploying emerging innovations and technologies to improve the lives of affected children and families in North Carolina and beyond.

What is a Rare/Genetic Lung Disease?

A rare lung disease is one that affects fewer than 200,000 people in the United States. Many, but not all, of these diseases are genetic, meaning they are caused by changes in DNA and can be passed down in families; for these conditions, symptoms of disease usually appear very early in life. Other forms of rare lung disease can be caused by infections, severe gastroesophageal reflux, other diseases or their treatments, or environmental exposures and can first occur at any age. While there are many causes of rare lung disease (see Conditions We Treat below), most of them end up harming the lung in similar ways: by damaging the air sacs (alveoli) where oxygen exchange occurs, the larger airways (bronchial tubes) which move air into and out of the lungs, or the tissues surrounding these important structures.

Signs and Symptoms of Rare/Genetic Lung Disease

Each rare lung disease is different, and they can be mild or severe; however, many share these common signs and symptoms:

  • Poor growth or weight gain
  • Fast and/or labored breathing
  • Chronic or recurrent cough, wheeze, or crackling sounds during breathing
  • Shortness of breath during exercise or while eating (in infants)
  • Recurrent respiratory infections (pneumonia, bronchitis)
  • Possible respiratory distress / trouble breathing at birth
  • Other symptoms associated with specific conditions

Diagnosing Rare/Genetic Lung Disease

Diagnosing rare and genetic lung diseases can be quite difficult, because different ones can have similar symptoms and many require specialized tests to confirm.  Some of them may “look like” common diseases, such as asthma, leading to incorrect diagnosis. Our team are leaders in the field of rare and genetic lung disease and have expertise in conducting and interpreting needed tests to confirm any potential diagnoses. Because each disorder/disease has a different underlying cause and may respond to different treatments, getting the correct diagnosis as early as possible is key.

In addition to our Rare and Genetic Lung Disease Clinic, Physicians from our Rheumatology, Immunology and Allergy and Pediatric Pulmonology divisions have partnered to form an innovative, multi-disciplinary clinic focused on the diagnosis and treatment of children with rheumatologic and/or immune-mediated lung disease. For more information, please click here.

Treating and Managing Rare/Genetic Lung Disease

We will work with your family to create a personalized treatment plan based on the underlying cause of your child’s disease and their current condition. Many of the disorders that cause rare and genetic lung diseases are still being discovered and researched. As our understanding of these disorders improves and additional treatment strategies are identified, you can count on our team to continually evaluate and update your child’s treatment plan to keep her or him as active and healthy as possible.

Advancing Our Understanding of Rare and Genetic Lung Disease & Discovering New Treatment

Our team of doctors are not just clinicians, but also leading physician-scientists with excellent research programs aimed at improving our understanding of basic respiratory biology, rare and genetic lung diseases, and other related conditions. We are involved with several disease specific foundations and research networks and our members participate in or lead several projects with the ultimate goal of improving the health of children with all types of lung disease.

Conditions We Treat

Children’s Interstitial Lung Disease (chILD) and Related Conditions

Are a group of rare disorders that are associated with many different causes, appear at different stages in childhood (from infancy through late adolescence), and may or may not be associated with problems with other organ systems. “Interstitial” refers to the tissues around the air sacs (alveoli) and airways of the lungs; however, the different types of chILD can affect other parts of the lungs as well. Certain genetic traits, exposures, or some types of infections have been linked with chILD and related conditions. Because each disorder associated with chILD has a different underlying cause and may respond to different treatments, getting the correct diagnosis as early as possible is key.

Diseases more common in infancy include:
  • Surfactant (sur-FAK-tant) dysfunction mutations and other genetic diseases
  • Developmental disorders, such as alveolar capillary dysplasia
  • Lung growth abnormalities
  • Neuroendocrine cell hyperplasia of infancy (NEHI)
  • Pulmonary interstitial glycogenosis (PIG)
Diseases more common in children older than 2 years of age and teens include:
  • Idiopathic interstitial pneumonias:
    • Nonspecific interstitial pneumonia
    • Cryptogenic organizing pneumonia
    • Acute interstitial pneumonia
    • Desquamative interstitial pneumonia
    • Lymphocytic interstitial pneumonia
  • Other primary disorders:
    • Alveolar hemorrhage syndromes
    • Aspiration syndromes
    • Hypersensitivity pneumonitis
    • Infectious or postinfectious disease (bronchiolitis obliterans)
    • Eosinophilic pneumonia
    • Pulmonary alveolar proteinosis
    • Pulmonary infiltrates with eosinophilia
    • Pulmonary lymphatic disorders (lymphangiomatosis, lymphangiectasis)
    • Pulmonary vascular disorders (haemangiomatosis)
  • ILD associated with systemic disease processes:
    • Connective tissue diseases
    • Histiocytosis
    • Malignancy-related lung disease
    • Sarcoidosis
    • Storage diseases
  • Disorders of the compromised immune system:
    • Opportunistic infection
    • Disorders related to therapeutic intervention
    • Lung and bone marrow transplant-associated lung diseases
    • Diffuse alveolar damage of unknown cause
For more information on chILD and related disorders:

From the National Institutes of Health-NHLBI

From the chILD Foundation

Primary Ciliary Dyskinesia (PCD)

Is caused by many different genetic mutations and leads to airway disease due to improper airway clearance of mucus which leads to progressive airway disease. Signs and symptoms of PCD are often apparent at birth or in very early childhood, but because this condition is rare, early signs and symptoms are similar to infections and conditions experienced by most young children, and diagnosis requires specialized testing, accurately detecting and diagnosing children with PCD is challenging.

For more information on PCD:

UNC’s Pediatric Primary Ciliary Dyskinesia Clinic

National Heart, Lung, and Blood Institute – PCD