Previously published on Factoidz.com on 8/12/10 by this author
Cystic Fibrosis (CF) is a fairly common hereditary disorder identified in newborns, which had been one of the primary culprits that increased the child-mortality rates. Modern medicine has helped to decrease the death rate in children. Cystic Fibrosis affects the sinuses, pancreas, bronchi of the lungs, intestines and the sweat glands; these areas become blocked with extremely thick mucus. According to one study, CF affects about one in a thousand newborn babies. Other less common names of this genetic disease are fibrocystic disease of pancreas and mucoviscidosis. Symptoms normally appear during the very first weeks of life of the baby, and the attacks become severe and occur often. In very rare occasions, CF might be triggered at puberty, rather than when very young.
Symptoms of cystic fibrosis
Symptoms that indicate the onset of cystic fibrosis disease are: Difficulty in breathing even at rest, grossly swollen abdomen, pallor (a sickly pale appearance of the skin and mucous membranes), blue skin (due to not having enough oxygen supplied to the body’s tissues and organs through the blood), bowel obstruction that prevents regular evacuation.
One of the strongest symptoms is salty sweat. If you taste your child’s sweat it will taste salty. The loss of salts through sweating is so severe that the patient becomes dehydrated, causing an electrolyte imbalance; this imbalance can cause sudden death. There can be infertility associated with cystic fibrosis, as the ducts and tubes become blocked from mucus at the time of birth. Males can suffer damage to the vas deferens, the duct that carries the semen; females can suffer from blocked fallopian tubes.
Our bodies are designed to maintain proper pH and body temperature through the moisture we are able to maintain within the body. Our cells create a liquidy substance called mucus, which has many functions. In CF, the body creates too much mucus, and that mucus is usually much thicker than normal. Just as sweat, produced by the sweat glands, cools the outside of the body, the mucus produced by the mucous membranes helps to regulate the body’s internal temperature.
Patients who suffer from cystic fibrosis manufacture mucus that is slimy, sticky and thick. The thick mucus keeps blocking the paths around the cells. Further, this viscous mucus becomes a breeding ground for bacteria and disease causing pathogens. The abnormal production of viscous mucus can lead to cell damage and it can eventually lead to loss of life.
Tests for cystic fibrosis
Apart from the physical symptoms – loss of salt (due to sweating), dehydration, pallor, dry skin, and difficulty in breathing – which suggest a possible diagnosis of CF, there are laboratory tests which will be used to establish a definite diagnosis of cystic fibrosis. In addition to this, blood samples should be taken for the purpose of genetic mapping. Genetic mapping will identify the genes which cause the condition. A routine test called ‘newborn screening sweat testing’ helps in the early diagnosis of cystic fibrosis. .
Treatment for cystic fibrosis
According to most medical practitioners, emphasis of treatment of cystic fibrosis should always be laid on proactive management of symptoms. Clearing away the air-passages of lungs, either with the aid of inhalers and medicines or, through implantation of mechanical gadgets to expand the airway is recommended. However, a common difficulty that patients with cystic fibrosis share is trying to adapt to normal life when they have a disease which normally makes life difficult. Aside from medications and mechanical devices, it is important that the patient with CF eat a healthy diet; proper nutrition should help to keep the immune system healthy. A healthy immune system will help to fight against infections.
Modern genetic engineering science helps in finding the onset of cystic fibrosis as early as conception. This genetic engineering can also help in the treatment of CF. One or both of the parents are tested for default genes, establishing the risk of cystic fibrosis to their children. If a high risk appears based on the parents’ blood samples, a test is also conducted from a blood sample collected from the fetus.
Because cystic fibrosis is a genetic disorder, it cannot be completely cured. However, the symptoms and side effects of the disease can be completely relieved with proper treatment. Modern medicine has helped to drastically increase the quality of life in children and adults diagnosed with cystic fibrosis.