Cystic fibrosis (CF), also known as cystic fibrosis, cystic fibrosis or cystic fibrosis is a common genetic diseases. This disease will affect the patient's body, resulting in a gradual movement difficulties, and premature death. The most common symptom is difficulty breathing because of long-term repeated lung infections caused by other possible symptoms include sinusitis, dysplasia, diarrhea and infertility.
Cystic fibrosis is the most common fatal genetic disease that occurs most frequently among the European or Jews, for every 25 people of European descent will have a carriers, which this disease is very common in Europe and the United States. Prenatal extract amniotic fluid for genetic analysis or sweat to check in early childhood can easily diagnosis the disease. Although the diagnosis is simple, but this disease is not yet curable therapy or drugs, the majority of patients with lung failure leading to death in two, the age of thirty because the only way to delay only lung transplant. One year after the transplant survival rate is 80%, five-year survival is 55%.
Cystic fibrosis cystic fibrosis transmembrane conductance regulator ( Cystic fibrosis Transmembrane Conductance Regulator, CFTR) of the mutation caused the gene responsible for making sweat, digestive juices and a variety of mucus. Most normal people have a normal gene, but in fact only need one of which is normal enough, when this is not normal when the two genes in the gene occurs in cystic fibrosis This is because this disease is caused by recessive inheritance.
Symptoms of Cystic fibrosis
The symptoms of cystic fibrosis because the patient's age, body organs to be affected, previous treatment and other disease infection and there are differences. In conclusion, cystic fibrosis, systemic effects, including aspects of growth, respiratory, digestive system and sexual organs aspects. Of newborns with cystic fibrosis have a slow growth rate, and intestinal obstruction , with the growth of the patient's other symptoms appears, including the long-term dysplasia, frequent lung infections, digestion and absorption difficult and lead to infertility.
Cystic fibrosis produce a thick mucus can clog the tiny tracheal mucus in the lungs become bacterial breeding grounds, making the lung by repeated infection inflammation leading to lung tissue changes. Early symptoms include cough, are common to a large number of sputum, and exercise to reduce. At a later stage, the changes in the lung tissue, lead to long-term breathing difficulties.
Other symptoms include coughing up blood (hemoptysis), bronchiectasis (bronchiectasis), pulmonary vascular hypertension (pulmonary hypertension), heart failure , circulatory system to reduce the delivery of oxygen efficiency, and respiratory failure. In addition to bacterial infection, patients often will have other lung-related symptoms, including allergic bronchopulmonary aspergillosis (allergic bronchopulmonary aspergillosis), which is a patient's body to a common mold from Aspergillus fumigatus, adverse reactions, resulting in serious difficulty in breathing, in addition to bird-shaped mycobacteria (mycobacterium avium complex) is a tuberculosis bacteria are quite similar to bacteria, it will have the lung tissue to produce further infection, and most of the antibiotics such bacteria are not effect.
The thick mucus within the sinus will be blocked sinuses and lead to infection, symptoms include facial pain, fever, and headache. As long repeated inflammation of the nasal cavity of patients with cystic fibrosis have nose meat hyperplasia, these nasal polyps obstruct the respiratory tract, thereby causing difficulty in breathing.
Digestive tract, Liver, and Pancreas
It can be observed in the diagnosis of newborns with cystic fibrosis when a row of meconium ability, if a newborn can not be successful bowel movement, then it can be diagnosed the infant with cystic fibrosis. Can not be discharged Meconium may completely block the baby's intestinal tract, such symptoms have a tenth of the opportunities that will occur in the body of the newborn with cystic fibrosis. Due to the accumulation of a large number of faeces, intestinal perforation, is also very common, others include malnutrition, and abdominal pressure when coughing a substantial increase.
In addition to the lungs will be accumulated mucus, the pancreas responsible for secreting pancreatic juice would also accumulate thick secretions. Too thick mucus blocks the pancreatic digestive juices into the gut of the pipeline, and these accumulate in the pancreas, the digestive juices will cause pancreatitis ( Pancreatits ), further difficult to recover the injury of the pancreas. In addition to the damage produced by the pancreas, the digestive tract also because of the lack of pancreatic digestive juices and makes it difficult to digest and absorb food nutrients, which can lead to malnutrition and stunted, many of the nutrients and vitamins the body needs. unable to obtain, such as vitamins A, D, E, and K and other fat-soluble vitamins, in addition to the problems of the pancreas, patients often have acid reflux , intussusception caused by intestinal obstruction, and constipation older patients may otherwise with fetal intestinal obstruction similar to colon obstruction syndrome.
By the same thick digestive juice secretions of organs there is liver. Secreted by the liver to help digest fats, bile blockage of bile duct , and then the liver damage. Down for a long time, may lead to cirrhosis of the liver makes the liver lost the ability to remove body toxins and manufacture of important proteins such as clotting factors.
Endocrine disease, and growth and development
When the pancreas is damaged, its internal responsible for the secretion of insulin, islet cells also may be subject to damage and death, leading to diabetes. Intestinal absorptive capacity of the affected easily lead to malnutrition, such as calcium and phosphorus in regulating bone development of basic nutrition is very important vitamin D to absorb the bad words, and may lead to osteoporosis patients easy fractures. In addition, patients can also be common finger toes swollen symptoms, it is because the long-term hypoxia the results of the impact of chronic diseases, and peripheral bone.
Another very common symptom is stunted. Children suffering from this disease often than the children of the same age grow slowly, usually cystic fibrosis in the diagnosis of dysplasia will be found. Are many reasons for this illness can cause dysplasia, such as long-term lung infection, malabsorption of nutrients or excessive metabolic rate and so may cause dysplasia.
Infertility
Men and women will be affected by the impact of the disease and lead to infertility , according to statistics, 97 percent of male patients with complete infertility. This is because although the male patients with normal produce sperm , but the lack of physical connection of the vas deferens of the testis with the outside world , so normal and healthy sperm does not exist in the natural ejaculation of semen. Therefore, many men lack the vas deferens and infertility can be diagnosed after the artificial insemination process undetected mild cystic fibrosis symptoms. 20% is too strong cervical mucus of infertile women with cystic fibrosis, because too thick mucus to prevent sperm forward. Sometimes infertility symptoms may also be generated due to malnutrition caused by abnormal ovulation or menopause.
Diagnosis and follow-up
The diagnosis of cystic fibrosis newborn testing, sweat chloride of sodium electrolyte concentration testing, as well as genetic testing and other testing methods. 10% of patients in the United States, is the examination of the newborn immediately after birth was diagnosed with cystic fibrosis disease, high in the body of these babies have trypsin (trypsin) test results. As in many parts of the cystic fibrosis test is not a routine part of neonatal testing, so most of the patients are the symptoms of cystic fibrosis after medical treatment found to be suffering from the disease. Test of non-neonatal, the most commonly used test is the sweat test method; subjects will be connected to the electrodes are connected to test equipment and stimulate perspiration, a process called iontophoresis therapy (Iontophoresis), after Test personnel will collect the sweat of the subjects to sodium and chlorine content in the sweat test, sweat contains high sodium chloride content on behalf of the subjects with cystic fibrosis disease. In addition to the sweat test method, the method of genetic testing can confirm the CFTR gene, whether there are mutations to diagnose.
A number of different detection methods can test and track the development of complications of cystic fibrosis, such as X-rays and computed tomography can be used to check the lungs if there is any tissue damage or infection, the saliva test can see that the infection of bacteria types of pulmonary function in lung capacity test tests, blood tests can be learned liver function, vitamin deficiency, and diabetes, dual-energy X-ray bone densitometer (Dual energy X-ray absorptiometry, DEXA scans), you can test osteoporosis , while fecal The test can help diagnose digestive enzyme deficiency.
Production before diagnosis
Pregnancy or couples can prepare to become pregnant through to check whether the CFTR gene mutations to determine the probability of fetal cystic fibrosis, single or two couples measured results are high-risk groups, we test the baby CFTR gene. Although prenatal care can provide the fetus is suffering from cystic fibrosis, but due to the case of cystic fibrosis is not to be treated, that the fetus with cystic fibrosis, perhaps husband and wife can be considered to take abortions.
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