Cystic Fibrosis
What is Cystic Fibrosis?
Cystic Fibrosis (which is also abbreviated CF and known as CF of the pancreas) is a hereditary disease which affects primarily the lungs and the digestive system, leading to progressive disability and in the majority of the cases to an early death. This disease is on of the common life-shortening medical condition. The persons who suffer from Cystic Fibrosis can be diagnosed prior to birth by a genetic testing or in the early childhood by a sweat test (this is a test which measures the concentration of the sodium and chloride which is excreted in the sweat). It is well known the fact that there is no cure for this medical condition and the majority of the patients who are affected by Cystic Fibrosis usually die very young between their 20s and 30s as a consequence of lung failure.
The Cystic Fibrosis is caused by the mutation in the gene known as cystic fibrosis transmembrane conductance regulator (also abbreviated CFTCR). This gene produces a chloride ion channel which is an important factor in producing sweat, digestive mucus and juice. A normal person has two CFTR working genes (although in order to prevent the apparition of this disease only one gene is necessary), while in an affected person neither of the genes functions in normal parameters, this is why this medical condition is an autosomal recessive one. The name of Cystic Fibrosis refers to its characteristic – fibrosis (which means tissue scarring) of the biliary tract. Here is a list of the diseases which this medical condition can lead to, if it is let untreated or if it is not discovered in time: lung diseases, sinus disease, gastrointestinal disease, liver disease, pancreatic disease, endocrine disease, growth disease, infertility.
Cystic Fibrosis Symptoms
It is well known the fact that any medical disorder (including Cystic Fibrosis) can trigger a variety of symptoms. Therefore, some of Cystic Fibrosis's most uncommon symptoms have not been listed (mentioned) here. This is why we strongly recommend you to contact your personal health care provider whenever you develop any unusual, bothersome or unpleasant symptoms. Your personal physician will be able to tell you if you are suffering from Cystic Fibrosis or from any other medical disorder. Here is a list of the most common Cystic Fibrosis symptoms that a person who suffers from it may experience, although the symptoms of this disease depend on the age of the affected person, the extent of the medical condition, the recommended therapy and the previous infections experienced: difficulty in breathing and insufficient enzyme production in the pancreas, thick mucus production, less competent immune system, which leads to lung infections, poor growth, persistent diarrhea, infertility – the majority of the cases of infertility from Cystic Fibrosis were reported in males, meconium ileus – which is the blockage of the intestine, failure to thrive, poor absorption of vitamins and also nutrients, bulky, greasy and foul smelling stools, pale stools, pneumonia, chronic cough, abdominal swelling, pain and discomfort, gassiness, vomiting, a barrel – chested appearance, dehydration, fever, respiratory infections which are very frequent, malnutrition, poor appetite, fast respiration, flaring of the nostrils, sinusitis, nasal polyps, rounding of the fingers and toes, enlargement of the fingers and toes – also known as clubbing, rectal prolapse – this is the protrusion of the rectum through the anus, cor pulmonale – this is the enlargement of the right side of the heart, stomach cramping, stomach pain, coughing or wheezing, anemia, bleeding disorders, arthritis, osteoporosis, weight loss due to the poor appetite.
Cystic Fibrosis Treatment
The Cystic Fibrosis can be diagnosed at three stages: prenatal, after birth and in the early childhood. The diagnosing method used in the pregnant women is taking a sample of the amniotic fluid which is surrounding the child, which will be tested for the levels of the intestinal enzymes (which in a fetus who has Cystic Fibrosis are very low). The sample of amniotic liquid is done by using a technique named amniocentesis. In the case of a newborn, the technique is called immunoreactive trypsinogen test (also abbreviated IRT). During this test blood in drawn for a period of three days after the birth and it is send to a laboratory who analyze it for the protein called trypsinogen ( if the levels of trypsinogen are high then the child has Cystic Fibrosis). In older children and adults the testing method used is called electrolyte sweat test. The electrolyte sweat test measures the levels of the electrolytes (these include: sodium, potassium, chloride) in the patient’s sweat. Other testing techniques include: lung function tests, sputum cultures, and chest x-rays and stool examinations.
As we said before there is no existent cure for the persons who suffer from Cystic Fibrosis, but there are a few treatments which ameliorate the symptoms of this medical condition, such as for the liver and gallbladder diseases, infertility, lung problems, and digestive problems. The therapy for the liver disease which appears due to the Cystic Fibrosis is the oral dissolution therapy, which means taking ursodexoycholic acid in order to dissolve the formations which develop in the liver. The Cystic Fibrosis treatment for the gallbladder is named laparoscopic cholecystectomy, which means that the doctor will remove the gallbladder from the infected person. The lung problems may include inflammation, airway blockage, and bacterial infections and are usually treated with pharmaceutical methods. The inflammations are treated with non-steroidal anti-inflammatory drugs or steroids like: prednisone, pentoxifylline and ibuprofen. The airway blockage is treated with a medicine called dornase alfa. The bacterial infections of the lungs are also treated with medications which the doctors or personal health care provider prescribe. These drugs include: antibiotics (aminoglycosides), antipseudomonal penicillin, ethambutol, clarithromycin, clofazimine, aztreonam, cephalosporines, antimicrobial drugs (rifabutin). The antibiotics can be administered orally, injectable or inhaled.
The majority of the infertility cases are reported in men, and there is no cure for this. But, for the women who are infertile due to the Cystic Fibrosis, can become pregnant by intrauterine insemination with the sperm of their partner, but this is possible only if the women do not have severe lung impairment, which is can be a life threatening condition associated with pregnancy. The digestive problems which develop in this medical condition can be kept under control with a well-balanced diet with many calories and proteins and few fats. The doctors usually prescribe the patient vitamins A, D, E, K and sometimes pancreatic enzyme. If none of the methods listed above help the patient to improve the Cystic Fibrosis symptoms, then the ultimately treatment involves lung transplantation, but there is no way to find out if the patient survives or not after the transplant as the first three years are critical.
More about Cystic Fibrosis
To find out more about Cystic Fibrosis you are encouraged to research on the internet where you can find many great resources covering all the ins and outs of this serious condition. For instance services such as PubMed and KidsHealth are excellent but taking it one step further may be even more useful. More specifically that means finding discussion forums and communities where people with real experience from Cystic Fibrosis share their knowledge and experience. Another possible, and somtimes preferred, way to find out more is by picking up a book or two on the subject.
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