What is cystic fibrosis?

Cystic fibrosis is an inherited disease that affects the lungs, intestines, liver and pancreas. In cystic fibrosis, mucus-producing glands make excessive amounts of abnormally thick and sticky mucus, which clogs and obstructs the body’s digestive tract and air passages. The excessive mucus leads to serious problems with digestion and breathing, which often results in an early death. Cystic fibrosis is one of the most common chronic lung diseases in children and young adults (Source: NIH).

Cystic fibrosis most often affects the lungs and pancreas. In healthy lungs, air and oxygen pass through the upper respiratory tract, through the bronchioles, and into the alveoli. The alveoli are tiny hollow sac-like structures where oxygen is absorbed into the bloodstream. In people with cystic fibrosis, the buildup of thick, sticky mucus in these air passages reduces the effectiveness of breathing and the intake of oxygen. Extra mucus also encourages the growth of bacteria and viruses and chronic lung infections.

Cystic fibrosis can also cause serious problems with the pancreas, which produces enzymes that are important for food digestion. Cystic fibrosis can cause mucus to block the ducts that carry enzymes from the pancreas to the digestive tract, leading to abnormal digestion, malnutrition, and vitamin and mineral deficiencies.

Cystic fibrosis is generally diagnosed in infancy and early childhood. Cystic fibrosis is fatal, although life expectancy can be significantly extended with an early diagnosis and consistent medical care. Life expectancy has increased dramatically in recent decades because of the development of new and improved treatments. In the 1950s, children generally died of cystic fibrosis as infants or toddlers. At this time, the average life span is about 35 years, although some people with cystic fibrosis are living into their 40s, 50s and older.

Cystic fibrosis can lead to serious and life-threatening complications, such as nutritional deficiencies, diabetes, chronic lung infections, and respiratory failure. Seek prompt medical care if you, or your child, have symptoms of cystic fibrosis, such as growth delays, weight loss, a cough that does not go away, excessively salty sweat or skin, and constipation or greasy, foul-smelling stools.

Seek immediate medical care (call 911) if you, your child, or someone you are with, have severe shortness of breath, severe difficulty breathing, chest pain, or an unexplained decrease in alertness or consciousness.

SYMPTOMS

What are the symptoms of cystic fibrosis?

Typically, symptoms of cystic fibrosis and its complications affect the respiratory system and the digestive system. However, the symptoms vary between individuals, and not all people will experience symptoms in both body systems.... Read more about cystic fibrosissymptoms

CAUSES

What causes cystic fibrosis?

Cystic fibrosis is an inherited disease. It is caused by a mutation in the CFTR gene that triggers the mucus-producing glands of the body to make excessive amounts of abnormally thick and sticky mucus. A person must inherit two copies of the defective gene, one from each parent, in order to develop cystic fibrosis. Each parent of an affected individual carries one copy of the defective gene, but they do not usually show symptoms of the disease.... Read more about cystic fibrosiscauses

TREATMENTS

How is cystic fibrosis treated?

There is no cure for cystic fibrosis, but early diagnosis and consistent compliance with a treatment program can help to reduce symptoms and complications and extend life. Treatments for cystic fibrosis include a multifaceted approach that is tailored to your specific symptoms, the presence of coexisting diseases and complications, your age and medical history, and other factors.... Read more about cystic fibrosistreatments

Medical Reviewer: Williiams, Robert, MD Last Annual Review Date: Jun 22, 2011 Copyright: © Copyright 2011 Health Grades, Inc. All rights reserved. May not be reproduced or reprinted without permission from Health Grades, Inc. Use of this information is governed by the HealthGrades User Agreement.

This Article is Filed Under: Lungs, Breathing and Respiration


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