A three month old female patient presents with a history of fever and cough. Upon examination in the Emergency Department, the patient was diagnosed with pneumonia. She was then sent for following up testing to determine the cause of the pneumonia. The patient appears as an acutely ill Caucasian female. She appears to be in moderate respiratory distress. Her respiratory rate is currently 54 with some wheezing and rales noted upon auscultation. She has mild intercostal retractions. There is no see-saw breathing noted at this time. Her skin color is pale. Her capillary refill is <2 seconds. Currently, her heart rate is 150. She is in a sinus rhythm. Her mother states that she has a good appetite; however, she has been slow to gain weight. Her mother also states that her stools appear greasy in nature. She has had frequent coughing spells.
The infant is diagnosed with cystic fibrosis. Cystic fibrosis can be diagnosed in a number of ways. Since the infant is acutely ill, blood tests were drawn. Her chloride level was 64 mmol/L. In infants, a chloride level above 60 mmol/L indicates positive diagnostic criteria for cystic fibrosis. The test can also be done through a sweat sample. If the sweat sample tests positive for high levels of chloride, the individual is possibly diagnosed with cystic fibrosis. Additional testing would confirm the diagnosis. Differential diagnoses for cystic fibrosis in an infant would include asthma, bronchiolitis, and aspergillosis. However, since the infant’s chloride level is significantly elevated, the diagnosis would be cystic fibrosis.
Cystic fibrosis is a genetic condition. It results when an individual inherits two copies of a defective gene. While it is very common for individuals to carry one copy of the defective gene, it is not common to have two parents who both have the gene. Additionally, both parents need to have the gene and pass this defective gene on to the child. As a recessive genetic disease, it is not common. The defective gene does not allow mucous to be broken down properly in the body. This creates a buildup of mucus in the individual’s body. While cystic fibrosis does not only affect the lungs, the buildup of mucus often leads to the destruction of the lungs. Additionally, individuals suffer frequent bouts of respiratory illness and infection as a result of the mucous buildup. The mucous buildup also creates significant damage to the individual’s pancreas and liver. In severe cases, organ transplantation is necessary to replace the damaged organs.
Cystic Fibrosis is treated with a variety of medications, as well as pulmonary exercises and activities. It is important that an individual with cystic fibrosis perform frequent airway clearance mechanisms to clear the mucous buildup. Additionally, the individual needs to take a variety of medications, including pancreatic enzymes. The person also utilizes anti-inflammatories and inhaled bronchodilators. These medications help open up the bronchial tree and decrease the swelling. Mucous-thinners are also utilized to assist in the clearance of the mucous.
Cystic fibrosis sufferers previously had very short life spans. This was the result of frequent lung infections. Currently, there is no cure for cystic fibrosis, but there are effective treatments. In the 1950s, cystic fibrosis sufferers often died before beginning school. However, today, individuals with cystic fibrosis have a life span of approximately thirty-five to forty years. While this is still a significantly decreased life span, it does show tremendous improvement in the prognosis. Scientists are working to find a way to “turn on” the defective gene. If this is discovered, then cystic fibrosis may be cured, rather than just treated. This is the eventual goal. However, in the meantime, treatments continue to improve.
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