What is cystic fibrosis? > Health and Wellness.
Cystic fibrosis
is a genetic disease that is due to a series of mutations in the gene
that encodes a protein called the cystic fibrosis (CFTR) transmembrane
conductance regulator. The CFTR is responsible for the regulation of the transport of chlorine through the membrane of exocrine epithelial cells (such as sweat glands). When
the CFTR is altered, there is a disorder in the regulation of the
channels of the chlorine from the body, which causes a decrease in the
secretion of water, which has resulted in an increase in the viscosity
of secretions, which are thus more difficult to remove, and produce an
obstruction of the ducts of organs that have altered skin cellssuch as the lung, pancreas, bowel, and sexual glands. The sweat glands are the most affected, which leads to an increase in the content of salt in the sweat. This is what allows to establish the diagnosis of cystic fibrosis.
Cystic fibrosis is a hereditary origin disease more prevalent in the race white, and affects one of every 2,000 live births of this breed, while the percentage drops to one of every 17,000 live births of blacks. Patients are at risk of having a child ill with 1% (which is much higher than it expected in the rest of the population). There is a 5% of people who have the own disease gene but who, however, are healthy and have not developed the disease.
Years ago the CF was a disease confined to children, due to the short life expectancy of people who were born with the condition. However, the expectation of life of the patients, has increased significantly mainly due to progress in treatments (especially of respiratory infections and nutritional status). There are patients who, probably as a result of an alteration of genes involved, have milder symptoms, so are diagnosed later (at puberty or even in adulthood).
The intestinal condition can manifest from birth by meconium ileus (intestinal obstruction in this case caused by the increase of viscosity of intestinal secretions). This is due to a decrease of the fluidity of the intestinal contents, by the decrease of the amount of water that contains. In addition, also occurs a reduction in the release of pancreatic enzymes which are responsible for digesting and make more liquid under normal conditions, the meconium (the first bowel movements of the baby) to facilitate their deportation. The clinic, is therefore characterized by pain and increase in abdomen, vomiting, and absence of bowel movements meconiales, during the first days of life (i.e., the child does not deflate in these first days after birth, when it is normal that at 24-48 hours I had already made some / deposition is). Mortality from this intestinal involvement, which was 55%, has fallen to 5% in the past 20 years, thanks to the progress in early surgical treatment.
The absorption of carbohydrates, however, hardly is affected, because the deficit of pancreatic amylase (which is one of the enzymes the pancreas excretes poorly) is offset in part by the secretion of salivary amylase (an enzyme with a function similar to the pancreatic amylase, but secreted with saliva). Pancreatic insufficiency is responsible for malnutrition that often suffer from these patients, and can occur in the early stages of the disease, more pronounced form in patients who are diagnosed before having a few more severe symptoms.
Diabetes, which afflicts about 10% of patients, increases its frequency according to the age of patients increases, and the average age of diagnosis of diabetes associated with cystic fibrosis is about 20 years.
The most striking clinical manifestations are usually respiratory, although steatorrhoea, when it is very intense, or a significant delay in development, can also to suspect the diagnosis. To confirm this, is the sweat test, which is to induce excessive sweating by administering an injection of pilocarpine (a drug) in an area of the skin, where the concentration of chlorine and sodium is determined. To make the test positive in children, the concentration of each must be greater than 60 mEq/L, but in adults should exceed 90 mEq/L. 98% of patients given positive to this test.
Since the early treatment of the symptoms improves the prognosis of the disease, it is recommended to make the diagnosis as soon as possible in the newborn, in those cases in which they appear signs which make suspect the presence of disease, or when there is a family history. In infants is diagnosed by measuring the concentration of a hormone called trypsin, although the ultimate test to confirm the existence of cystic fibrosis is that measuring the concentration of salt in the sweat.
To monitor the nutritional status and act according to the needs of the patient, Clinical Biochemistry determinations should be periodically (haemogram, proteins, fats...), and weight, size, perimeter of arm...
Patients who have pancreatic insufficiency must also consume commercial preparations of pancreatic enzymes.
The treatment of meconium ileus consists of surgery.
In the following link you will find more information about nutritional tips for cystic fibrosis.
If infections are persistent, antibiotic treatment should be continued, but if they are not very frequent treatment shall be limited to the time required in each case. Lung Transplantation for patients with very advanced disease may be indicated.
It is necessary for the patient to ingest salt supplements to deal with losses by sweat, especially in warm times.
Given the chronic and nature, for the moment, incurable disease, it is advisable that patients and their families receive psychological support.
However, despite the progress made, the most frequent cause of death is often associated to malnutrition resulting malabsorption of fats and nutrients, due to exocrine pancreatic insufficiency, recurrent respiratory infections and lack of appetite.
Other less common causes of death are the meconium ileus, chronic respiratory failure, heart failure, and the alteration of liver function.
Cystic fibrosis is a hereditary origin disease more prevalent in the race white, and affects one of every 2,000 live births of this breed, while the percentage drops to one of every 17,000 live births of blacks. Patients are at risk of having a child ill with 1% (which is much higher than it expected in the rest of the population). There is a 5% of people who have the own disease gene but who, however, are healthy and have not developed the disease.
Years ago the CF was a disease confined to children, due to the short life expectancy of people who were born with the condition. However, the expectation of life of the patients, has increased significantly mainly due to progress in treatments (especially of respiratory infections and nutritional status). There are patients who, probably as a result of an alteration of genes involved, have milder symptoms, so are diagnosed later (at puberty or even in adulthood).
Symptoms of cystic fibrosis
Cystic fibrosis is a disease that affects various organs, mainly the digestive system, the respiratory and the player.Digestive system
Cystic fibrosis may alter all the digestive organs that have secretory function, that is, they produce a substance such as, for example, the pancreas, affecting the exocrine function (release of hormones involved in digestion process), and less the endocrine (who is involved in the release of insulin).The intestinal condition can manifest from birth by meconium ileus (intestinal obstruction in this case caused by the increase of viscosity of intestinal secretions). This is due to a decrease of the fluidity of the intestinal contents, by the decrease of the amount of water that contains. In addition, also occurs a reduction in the release of pancreatic enzymes which are responsible for digesting and make more liquid under normal conditions, the meconium (the first bowel movements of the baby) to facilitate their deportation. The clinic, is therefore characterized by pain and increase in abdomen, vomiting, and absence of bowel movements meconiales, during the first days of life (i.e., the child does not deflate in these first days after birth, when it is normal that at 24-48 hours I had already made some / deposition is). Mortality from this intestinal involvement, which was 55%, has fallen to 5% in the past 20 years, thanks to the progress in early surgical treatment.
Equivalent meconium syndrome, or distal obstructive syndrome
This intestinal involvement is due to an increase in the consistency of the intestinal contents, which is usually associated with a slowing of intestinal transit. Its prevalence is very variable, less than 2% in children under 5 years, and between 7% and 12% in patients aged between 5 and 30 years. The clinic is usually based on intense abdominal pain, which appears before the intestinal obstruction (several weeks or months before). It usually occurs also constipation, although in some cases there may be diarrhea.Acute appendicitis
Mucous material can close the Appendix and cause acute appendicitis.Pancreatic condition
It is present in 90% of patients (practically all have data of pancreatic insufficiency, but 10% has respected pancreatic function) and manifests clinically with a bug in pancreatic function, whose end result is steatorrhoea (excessive fat in feces, motivated by the alteration in intestinal absorption of fats).The absorption of carbohydrates, however, hardly is affected, because the deficit of pancreatic amylase (which is one of the enzymes the pancreas excretes poorly) is offset in part by the secretion of salivary amylase (an enzyme with a function similar to the pancreatic amylase, but secreted with saliva). Pancreatic insufficiency is responsible for malnutrition that often suffer from these patients, and can occur in the early stages of the disease, more pronounced form in patients who are diagnosed before having a few more severe symptoms.
Diabetes, which afflicts about 10% of patients, increases its frequency according to the age of patients increases, and the average age of diagnosis of diabetes associated with cystic fibrosis is about 20 years.
Liver and biliary tract
They are also disrupted in this disease. 30% of patients older than 10 years have hepatomegaly (enlargement of the liver), and 10%, alterations of liver function. In adults, has been also observed a high incidence of biliary lithiasis (stones in the gallbladder).Breathing apparatus
Respiratory symptoms are related to the increase of the viscosity of bronchial secretions and defective mucociliary clearance, causing a chronic infection of the tract and the bronchial obstruction. There is lung injury in the newborn, but evolves throughout the life of the patient to respiratory failure with significant reduction of oxygen, causing them to cause heart disturbances.Acropachy
Thickening of the tips of the fingers of the hands and feet, with proliferation of bone tissue (bone) and swelling, which is associated with States of lack of oxygen in the tissues.Reproductive system
Male patients show a decrease in the number of sperm alterations at the level of the genital tract as a result, so many patients are infertile. Women have less alterations in reproductive function than men.Diagnosis of cystic fibrosis
Cystic fibrosis diagnosis is mainly clinical.The most striking clinical manifestations are usually respiratory, although steatorrhoea, when it is very intense, or a significant delay in development, can also to suspect the diagnosis. To confirm this, is the sweat test, which is to induce excessive sweating by administering an injection of pilocarpine (a drug) in an area of the skin, where the concentration of chlorine and sodium is determined. To make the test positive in children, the concentration of each must be greater than 60 mEq/L, but in adults should exceed 90 mEq/L. 98% of patients given positive to this test.
Since the early treatment of the symptoms improves the prognosis of the disease, it is recommended to make the diagnosis as soon as possible in the newborn, in those cases in which they appear signs which make suspect the presence of disease, or when there is a family history. In infants is diagnosed by measuring the concentration of a hormone called trypsin, although the ultimate test to confirm the existence of cystic fibrosis is that measuring the concentration of salt in the sweat.
Treatment of cystic fibrosis
The treatment of cystic fibrosis is aimed to fight against the complications of the disease and to improve the quality of life of the patient, because there is a curative treatment even.Malnutrition and digestive problems
People who suffer from cystic fibrosis absorb fats poorly, which has resulted in a major State of malnutrition, which must be offset by a high calorie diet, whose fat content is somewhat higher than normal, and that provides sufficient protein and vitamins.To monitor the nutritional status and act according to the needs of the patient, Clinical Biochemistry determinations should be periodically (haemogram, proteins, fats...), and weight, size, perimeter of arm...
Patients who have pancreatic insufficiency must also consume commercial preparations of pancreatic enzymes.
The treatment of meconium ileus consists of surgery.
In the following link you will find more information about nutritional tips for cystic fibrosis.
Breathing apparatus
The purpose of the treatment of respiratory problems is again more fluid secretions, in order to prevent bronchial obstruction, and preventing and treating infections. Also recommend the respiratory physiotherapy, postural measures that facilitate the expulsion of secretions (2-3 daily sessions of 20 minutes before meals) and the intermittent administration of medications such as Bronchodilators (the same people who often use the asthmatic) spray and mucolytics (to facilitate the removal of secretions). Antibiotics are administered to treat the respiratory infection.If infections are persistent, antibiotic treatment should be continued, but if they are not very frequent treatment shall be limited to the time required in each case. Lung Transplantation for patients with very advanced disease may be indicated.
It is necessary for the patient to ingest salt supplements to deal with losses by sweat, especially in warm times.
Given the chronic and nature, for the moment, incurable disease, it is advisable that patients and their families receive psychological support.
Prognosis of cystic fibrosis
The life expectancy of patients with cystic fibrosis has improved much in recent years, since he spent four years in 1950 to 25 years in 1990. This is mainly due to the early diagnosis, improvements in maintenance of nutritional status and advances in the treatment of respiratory infections.However, despite the progress made, the most frequent cause of death is often associated to malnutrition resulting malabsorption of fats and nutrients, due to exocrine pancreatic insufficiency, recurrent respiratory infections and lack of appetite.
Other less common causes of death are the meconium ileus, chronic respiratory failure, heart failure, and the alteration of liver function.
Published for educational purposes