Cystic Fibrosis - Medical Malpractice Lawyers Injury CompensationLEGAL HELPLINE: ☎ 855 804 7125
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Cystic Fibrosis - Medical Malpractice
Cystic fibrosis is a chronic disease that is inherited in an autosomal recessive pattern. It affects around 70,000 children throughout the world and about 30,000 in the US alone. It is caused by a genetic defect of a single gene and makes a protein that produces excessive amounts of sticky, thick mucus that can clog the lungs and result in respiratory infections and can obstruct the pancreas so that the enzymes that digest food do not get to the digestive tract. Those with cystic fibrosis tend to die earlier than normal people-from complications of the disease. It used to be that kids died by the age of 5 years. With better treatments, people can easily live until their 40s or beyond that.
Symptoms of cystic fibrosis are many and include having a constant cough that occasionally produces thick phlegm, salty tasting skin, lung infections which are frequent in nature, shortness of breath or wheezing and poor weight gain or height gain despite what seems to be a good diet and frequent bulky or greasy stools. The lung problems are usually the worst and can easily result in death due to an infection that does not get better very fast or that is fulminant. Male subjects may have congenital absence of the vas deferens so that they are infertile. Women can be infertile due to hostile cervical mucus. In rare cases, a person can have a coagulation problem with cystic fibrosis. This is easily treated with vitamin K which needs to be injected in order for it to absorb more easily. Vitamin K clotting factors do not pass through the placenta easily.
About 1000 new cases of cystic fibrosis are diagnosed during each year in the US. More than 70 percent of all patients are identified by the age of 2 years. People are living longer, with more than 45 percent of all patients being adults greater than 18 years of age. Most people with CF live until their mid-thirties and then they die from complications of the disease.
The lung disease of cystic fibrosis occurs because of the clogging of the airways from thick mucus build up. There is an increase in inflammation from the thick mucus and infection of the lungs is common. The symptoms of an infection of the lung include cough, which may or may not be productive, fever, shortness of breath and wheezing. There can be the coughing up of blood, which is called hemoptysis and pulmonary hypertension and heart failure due to damaged blood vessels of the lungs. A low oxygen level is common in a severe infection of the lungs. You can get bacterial infections of the lung or fungal infections, such as an Aspergillus infection. Mycobacterial infections are also common.
The mucus in the sinuses is also very thick so that you can get recurrent sinus infections and symptoms of nasal congestion, fever and sinus headache. You can get nasal polyps, which make the symptom worse. About 10 to 25 percent of cystic fibrosis patients will get sinus or nasal polyps and recurrent sinus infections.
Cystic fibrosis used to be diagnosed by doing a skin sweat test or by noting the lack of normal bowel movements in newborns. Now the patient can be identified by genetic testing as being a carrier or having the actual disease of cystic fibrosis. In newborns, doctors check for the presence of an elevated trypsinogen level and the go on to check for a positive sweat test to see if the child really has the disease. There can be prenatal or neonatal screening for the disease. The CFTR gene is found on chromosome 7 at the q31.2 locus. It creates a single protein that is about 1480 amino acids in length. The abnormal protein sticks to the cells of the sweat glands, pancreas, lungs and other organs. It acts like a channel that connects the cytoplasm of the cell to the outer milieu of the cell.
There is no cure for cystic fibrosis but it can be managed with several techniques. Over the last seventy years, treatment has become much more successful. Seventy years ago, children died in infancy; now they live to adulthood. The best treatment involves managing infections before they actually occur, having good nutrition and maintaining an active lifestyle. The idea is to slow the decline of the affected organs and it often requires the help of a gastroenterologist, internist and pulmonary specialist. Most people with the disease who want to be parents can undergo assisted reproductive technology such as IVF, which can remove those embryos that are positive for the disease and only implant those embryos that are free of the disease. IV, oral or inhaled antibiotics are used to treat the impending lung diseases and inhaled corticosteroids or bronchodilators are used to treat the wheezing and inflammation.
Sputum is dislodged by mechanical means and in severe cases, a lung transplant can be performed. A pancreatic transplant may need to be done as well.LEGAL HELPLINE: ☎ 855 804 7125