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Syndromes in Genetic Lung Diseases

Syndromes, or disorders, that are an outgrowth of genetic lung disease are considered inherited conditions. There are a range of genetic lung diseases, but the most common are cystic fibrosis, primary ciliary dyskinesia, Niemann-Pick disease and alpha-1 antitrypsin—or AAT—deficiency. Since the 1990s, treatment has focused on gene therapies, specifically with respect to cystic fibrosis and AAT deficiency. According to NIH Public Access, researchers are hopeful.

  1. Significance

    • On average, people breathe in and out about 25,000 times each day, says MedlinePlus. Your lungs do the highly critical job of getting oxygen into your blood by extracting it from the surrounding air. Lungs serve also to expel carbon dioxide. Without oxygen, your body's cells would be incapable of functioning and growing. In the United States, millions of people are affected by lung disease. Breathing can be labored and next to impossible in people with lung problems, especially those with genetic lung syndromes. According to MedlinePlus, all lung diseases as a group represent the No. 3 killer of Americans.

    Cystic Fibrosis

    • Cystic fibrosis—or CF—is one of the most common genetic lung diseases and the most deadly, says NIH Public Access. In CF, a defective gene causes the body to produce atypically thick mucus, clogging the lungs and digestive system. The disorder is incurable, but great strides in treatment have been made. Thirty years ago, people with CF died in childhood and as adolescents. Now, most individuals are surviving to be older than 35 years of age, says MedlinePlus.

    Alpha-1 Antitrypsin Deficiency

    • Alpha-1 antitrypsin deficiency can cause both liver and lung disease and doesn't present in individuals until adulthood—usually between 20 and 50. Shortness of breath is one of the early warning signs. The ultimate outcome is emphysema in many cases. The syndrome strikes about one in 3,500 people of European decent. AAT is a protein that protects the lungs. Sufferers lack this gene. AAT deficiency cannot be cured, but it's treatable. For example, the missing protein can be administered.

    Primary Ciliary Dyskinesia

    • Primary ciliary dyskinesia—or PCD—is an incurable lung disorder that, if treated promptly and correctly, can be managed. It is also known as immotile cilia syndrome. The condition is characterized by a breakdown in the action of the lung's cilia, rendering the hairlike structures incompetent or immotile. In either case, they fail to move mucus out of the air passages. This means that mucus builds up and causes blockages and infections.

    Niemann-Pick Disease

    • People who have Niemann-Pick disease type B tend to experience frequent lung infections and often live just into adulthood. The disease is characterized by the omission of a key enzyme that is utilized by all of the body's cells. The disorder has a range of concomitant conditions, among them abnormal blood characteristics—including high-serum cholesterol and lipids as well as decreased blood platelets. Niemann-Pick tends to strike people of Ashkenazi Jewish descent.

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