Cystic Fibrosis Case Studies

Cystic fibrosis is an autosomal recessive gene disorder. This disease affects the lungs most significantly. It also affects the pancreas, liver, and intestines, and various organs. This disease is characterized by the buildup of thick, sticky mucus that can damage vital organs. This abnormal mucus can clog the airways which will lead to severe problems with breathing and bacterial infections in the lungs. These infections will cause an individual to cough and wheeze. Inflammation is caused as well. Over time, mucus buildup and infections result in permanent lung damage which includes the formation of scar tissue and cyst in the lungs. Cystic fibrosis is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) located…show more content…
This screening is basically for confirmation purposes. There was a study conducted (from Oct. 2002 – Aug. 2005) where 619, 105 infants were screened for cystic fibrosis. Of those screened 3,797 were positive, 128 were diagnosed with cystic fibrosis, and 690 cases were “not closed”. For the patients that participated in this study sweat tests were also administered. Sweat chloride level for most patients with cystic fibrosis is greater than 60 mmol/l, but there is a possibility for a newborn under three months to have a borderline sweat chloride. If sweat chloride is less than 40 mmol/l, the patient is negative. If sweat chloride is between 40 and 60, the patient is considered borderline. If sweat chloride is greater than 60 mmol/l, the patient more than likely has cystic fibrosis. 5 patients were diagnosed with cystic fibrosis out of 1,746 infants. There were 14 screen positive patients with a high risk of having cystic fibrosis based on the presence of two cystic fibrosis mutations who were found to have negative sweat test results. 25% of infants who were diagnosed with this disease had borderline sweat chloride levels that were between 30 and 60 mEq/L. 80% of the patients with sweat chloride between 30 and 60 mEq/L measures with fecal elastase and were pancreatic…show more content…
About 5 – 7% of people with cystic fibrosis have liver disease. This occurs silently over time, and can go unnoticed or have no symptoms for a long time. Because people with cystic fibrosis have sticky bile, bile ducts can become blocked. This blockage can prevent a normal flow of bile through the duct. Fibrosis of the liver tissue can occur over time, and may lead to scarring. If the liver becomes scarred, the blood cannot get through the liver at the normal pace. This can create a higher than normal pressure on the portal vein, and this is known as portal hypertension. Some symptoms of liver disease may include enlarged liver or spleen, bruising or bleeding, nausea or belly pain, weight loss or poor weight gain, fluid pooling in the abdomen, and change in color of the stool and how often bowel movements