unc children’s hospital is home to a world-class clinical and research program in rare and genetic lung diseases affecting children. 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. each rare lung disease is different, and they can be mild or severe; however, many share these common signs and symptoms: diagnosing rare and genetic lung diseases can be quite difficult, because different ones can have similar symptoms and many require specialized tests to confirm.
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. many of the disorders that cause rare and genetic lung diseases are still being discovered and researched. 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. 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.
whether you are a patient living with lung disease or a caregiver, join the better breathers network for timely education, support and connection. in alpha-1 antitrypsin deficiency, the body’s normal production of the aat protein is impaired, resulting in the destruction of sensitive lung tissue. individuals with aat deficiency may have a wide variety of symptoms. symptoms can appear early in life or may not begin until middle-age.
see tips for what to expect, managing the condition and finding support for aat deficiency. here are a few questions to ask your doctor about alpha-1. your tax-deductible donation funds lung disease and lung cancer research, new treatments, lung health education, and more. the american lung association is a 501(c)(3) charitable organization. talk to our experts at the american lung association lung helpline and tobacco quitline.
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 diseases. alpha-1-antitrypsin deficiency asthma cystic fibrosis lung carcinoma, small cell. alpha-1 antitrypsin (aat) deficiency is a rare genetic disorder that is passed on in families and can affect the lungs, liver and/or skin., .
severe asthma. bronchiectasis. bronchiolitis obliterans. congenital diaphragmatic hernia. respiratory diseases can affect people of all ages and ethnicities. when a rare respiratory disease (like cf) has a genetic cause, it may first two types of genetic diseases are associated with abnormal mucociliary clearance. the first type results in defective ciliary function and includes primary chronic obstructive pulmonary disease (copd) research has found that the genes that determine lung function, including the development and, .
When you try to get related information on genetic breathing disorders, you may look for related areas. .