Genetic Lung Disorders

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How genetic lung disorders are inherited varies, and the affect they have on people suffering from any of the conditions varies as well. Some are more common than others. Knowing more about these disorders will help patients, and those caring for them, better understand each disorder and how the patient is affected.

Cystic Fibrosis

Cystic fibrosis affects the body’s mucus glands. The damage can progress to chronic digestive system problems and damage to the respiratory system.Mucus is necessary to protect and lubricate different parts of the body. In patients with this disorder, the mucus produced by the body is abnormally sticky and thick, which can result in airway obstruction, bacterial lung infections, and severe breathing problems.

This disorder is fairly common in the United States among the Caucasian population, with about one in 2,500 to 3,000 newborns affected.A CFTR gene mutation is responsible for causing this condition and this gene mutation is inherited in an autosomal recessive pattern. The earlier treatment begins, the better the possible prognosis. Lung problems may be treated with antibiotics, DNAse enzyme replacement therapy, lung transplant, inhaled medicines, PPV and flu vaccines each year, and oxygen therapy. Nutritional and bowel problems may be treated with a special high calorie and high protein diet, vitamin supplements, pancreatic enzymes, and treatments to soften stools.

Interstitial Lung Disease

This disorder is one of the genetic lung disorders. It is actually not a single disorder, but a term to describe many, most of which result in the lung tissue becoming progressively scarred. The incidence rates vary based on the specific condition. The genetic mutations thought to possibly cause this disorder are usually inherited in an autosomal recessive pattern. The genes that may play a role include SFTPB, ABCA3, and SFTPC. Treatment may include azathioprine, corticosteroids, acetylcysteine, oxygen therapy, anti-fibrotics, pulmonary rehabilitation, and lung transplantation.

Alpha-1 Antitrypsin Deficiency

This disorder is characterized by the body producing insufficient amounts of a protein responsible for protecting the liver and lungs from damage. This disorder may result in liver disease or emphysema. Incidence varies by population and it is estimated that those with European ancestry have an incidence rate of about one in 1,500 to 3,500. A mutation of the SERPINA1 gene is responsible for this disorder and it is inherited in an autosomal codominant pattern. Replacing the missing AAT protein via weekly intravenous treatments is how this condition is treated, however, who will benefit from this treatment is not known at this time. Those who smoke must quit. Other treatments are often administered to treat cirrhosis and emphysema.


MayoClinic. (2009). Interstitial Lung Disease. Retrieved on January 10, 2011 from MayoClinic:

Genetics Home Reference. (2008). Cystic Fibrosis. Retrieved on January 10, 2011 from Genetics Home Reference:

Genetics Home Reference. (2009). Alpha-1 Antitrypsin Deficiency. Retrieved on January 10, 2011 from Genetics Home Reference: