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Symptoms of Cystic Fibrosis

Symptoms of Cystic Fibrosis: Introduction

The types and severity of symptoms of cystic fibrosis vary between individuals. Symptoms may be present at birth or they may not occur for months or even years. Symptoms are related to an excessive build-up of thick mucus in the tubes, ducts and passages of the body. Symptoms most often affect the lungs and digestive system, but not everyone with cystic fibrosis has symptoms in both the respiratory and digestive systems.

A hallmark symptom is excessively salty skin. Symptoms that affect the lungs and respiratory system include shortness of breath, especially with exertion, chronic cough, and wheezing (a whistling sound made with breathing). Complications, such as asthma and frequent infections, including pneumonia, sinusitis and bronchitis, can occur.

In cystic fibrosis, the ducts that carry enzymes from the pancreas to the digestive tract become clogged, leading to problems with digestion, including greasy, foul-smelling feces, vitamin deficiencies and mineral deficiencies. This can result in growth delays and children that are small for their age. Sometimes intussusception and rectal prolapse can occur in the intestines and rectum.

Complications that can occur due to cystic fibrosis include diabetes, infertility and rarely, serious liver problems, such as cirrhosis and portal hypertension....more about Cystic Fibrosis »

Symptoms of Cystic Fibrosis

The list of signs and symptoms mentioned in various sources for Cystic Fibrosis includes the 77 symptoms listed below:

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Cystic Fibrosis: Symptom Checkers

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Cystic Fibrosis: Symptom Assessment Questionnaires

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Cystic Fibrosis: Complications

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Diagnostic Testing

Diagnostic testing of medical conditions related to Cystic Fibrosis:

Research More About Cystic Fibrosis

Do I have Cystic Fibrosis?

Cystic Fibrosis: Medical Mistakes

Cystic Fibrosis: Undiagnosed Conditions

Diseases that may be commonly undiagnosed in related medical areas:

Home Diagnostic Testing

Home medical tests related to Cystic Fibrosis:

Wrongly Diagnosed with Cystic Fibrosis?

The list of other diseases or medical conditions that may be on the differential diagnosis list of alternative diagnoses for Cystic Fibrosis includes:

Cystic Fibrosis: Research Doctors & Specialists

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Other Possible Causes of these Symptoms

Click on any of the symptoms below to see a full list of other causes including diseases, medical conditions, toxins, drug interactions, or drug side effect causes of that symptom.

Article Excerpts About Symptoms of Cystic Fibrosis:

Genes and Disease by the National Center for Biotechnology (Excerpt)

It causes the body to produce a thick, sticky mucus that clogs the lungs, leading to infection, and blocks the pancreas, stopping digestive enzymes from reaching the intestines where they are required to digest food. (Source: Genes and Disease by the National Center for Biotechnology)

Cystic Fibrosis Research Directions: NIDDK (Excerpt)

The most characteristic symptom of CF is the excessive production of thick, sticky mucus in the airways. Several factors may contribute to this mucus abnormality. In CF, the cells lining the airway do not transport salt and water normally, so mucus and other airway secretions may be depleted of water.

There are also chemical changes in the mucus proteins. The mucus becomes so thick that it clogs the airways and provides an environment in which bacteria thrive. In response, white blood cells are recruited into the lung to fight the infection. These white blood cells die and release their genetic material, sticky DNA, into the mucus. This DNA aggravates the already excessive stickiness of the mucus, setting up a vicious cycle of further airway obstruction, inflammation and infection. To dislodge the mucus, CF patients cough frequently and require time-consuming daily chest and back clapping and body positioning to drain lung secretions.

Because the mucus provides an ideal breeding ground for many microorganisms, CF patients have frequent airway infections. Among the most common germs causing infections in CF patients are Pseudomonas bacteria. This germ is difficult to clear in CF patients, even after treatment with antibiotics. Typically, CF patients have a pattern of low-grade, persistent infection with periodic worsening, sometimes requiring hospitalization. Recurring Pseudomonas infection and the inflammation that accompanies it gradually damage the lungs, causing respiratory failure, which is the leading cause of death among CF patients.

As in the lung, thick secretions clog the pancreatic ducts and damage the pancreas. In some CF patients, this damage occurs even before birth, while in others it develops more gradually. The pancreas supplies digestive enzymes and bicarbonate to neutralize stomach acid so the enzymes can work properly in the intestine. Most CF patients have insufficient amounts of digestive enzymes for normal digestion. Pancreatic insufficiency causes foul-smelling, bulky bowel movements, malnutrition and slowed growth and development. Replacement of pancreatic enzymes can alleviate these symptoms. Attention to diet and supplements of fat-soluble vitamins are also required. As the disease progresses, the cells in the pancreas that make insulin may also be damaged and patients may develop diabetes.

In addition to the pancreas, abnormalities are seen in other parts of the gastrointestinal tract in CF. The bile ducts in the liver may be affected, causing biliary cirrhosis in a small percentage of patients. Newborns with CF may develop a condition called meconium ileus, in which the small intestine is obstructed by a plug of meconium, the material in the newborn gastrointestinal tract.

CF also affects the reproductive organs, causing infertility in nearly all men and some women with the disease. Men with CF are generally infertile because the tubules, called the vas deferens, that transport sperm from the testes are absent or undeveloped. Fertility may be reduced in women due to abnormal cervical mucus or to menstrual irregularity. Although pregnancy can be risky, many women with CF with relatively good pulmonary function have borne healthy children. However, the incidence of CF in their offspring is about one in 50.

Salt absorption in the sweat ducts is also impaired, and CF patients produce extremely salty sweat. Based on this observation, a scientist working at NIDDK forty years ago developed a sweat test to diagnose CF. This test is still the standard for diagnosis. With the discovery of the gene defective in CF, the sweat test can be supplemented by genetic tests when the results are ambiguous.

The symptoms and severity of CF vary from patient to patient. For example, not all CF patients suffer from impaired pancreatic function. The degree of lung disease also varies. Some of this variation can be attributed to differences in the specific genetic defects in different patients, but even patients with identical mutations may have very different severities of disease. Even siblings with the same genetic defect who share other genetic traits can have different CF manifestations. Therefore, although the specific mutation in the CF gene contributes to the course of the disease, other differences in the individual genetic makeup, and perhaps in the environment, also play a role. (Source: excerpt from Cystic Fibrosis Research Directions: NIDDK)

NHLBI, Facts About Cystic Fibrosis: NHLBI (Excerpt)

CF does not follow the same pattern in all patients but affects different people in different ways and to varying degrees. However, the basic problem is the same-an abnormality in the glands, which produce or secrete sweat and mucus. Sweat cools the body; mucus lubricates the respiratory, digestive, and reproductive systems, and prevents tissues from drying out, protecting them from infection.

People with CF lose excessive amounts of salt when they sweat. This can upset the balance of minerals in the blood, which may cause abnormal heart rhythms. Going into shock is also a risk.

Mucus in CF patients is very thick and accumulates in the intestines and lungs. The result is malnutrition, poor growth, frequent respiratory infections, breathing difficulties, and eventually permanent lung damage. Lung disease is the usual cause of death in most patients. (Source: excerpt from NHLBI, Facts About Cystic Fibrosis: NHLBI)

NHLBI, Facts About Cystic Fibrosis: NHLBI (Excerpt)

CF symptoms vary from child to child. A baby born with the CF genes usually has symptoms during its first year. Sometimes, however, signs of the disease may not show up until adolescence or even later. Infants or young children should be tested for CF if they have persistent diarrhea, bulky foul-smelling and greasy stools, frequent wheezing or pneumonia, a chronic cough with thick mucus, salty-tasting skin, or poor growth. CF should be suspected in babies born with an intestinal blockage called meconium ileus. (Source: excerpt from NHLBI, Facts About Cystic Fibrosis: NHLBI)

Cystic Fibrosis as a Cause of Symptoms or Medical Conditions

When considering symptoms of Cystic Fibrosis, it is also important to consider Cystic Fibrosis as a possible cause of other medical conditions. The Disease Database lists the following medical conditions that Cystic Fibrosis may cause:

- (Source - Diseases Database)

Cystic Fibrosis: Onset and Incubation

Onset of Cystic Fibrosis: Symptoms of CF appear in infancy and childhood

Medical articles and books on symptoms:

These general reference articles may be of interest in relation to medical signs and symptoms of disease in general:

About signs and symptoms of Cystic Fibrosis:

The symptom information on this page attempts to provide a list of some possible signs and symptoms of Cystic Fibrosis. This signs and symptoms information for Cystic Fibrosis has been gathered from various sources, may not be fully accurate, and may not be the full list of Cystic Fibrosis signs or Cystic Fibrosis symptoms. Furthermore, signs and symptoms of Cystic Fibrosis may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Cystic Fibrosis symptoms.


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