Case Study #1
October 21, 2013
--This case study is in dedication to April Pitts, a friend of mine suffering from Cystic Fibrosis. Stay strong April--
Mary and Brandon adopted a three-year old toddler named Sam two weeks ago. Sam is good-natured and very inquisitive. Typically, before the finalization of an adoption, children are required to undergo a routine examination by a physician. However, the required examination is not meant to be a complete health screening, and many conditions are not even checked. Therefore, Mary and Brandon are bringing Sam to Trinity Medical Center for a standard ...view middle of the document...
There is slight elevation in neutrophils. Chest x-ray results: Some hyperinflation and bronchial wall thickening is apparent. Mary expressed her concern over the color of Sam’s sputum. Mary was upset that she had forgotten to tell the pediatrician the other day about this fact. The sputum Sam had been coughing up was green and viscid. While talking with Mary and Brandon about Sam’s sputum, the pediatrician looked over at Sam and noticed a white “frosting” on his face (the “frosting” is an indication of salty build-up on the drying edge of sweat). The pediatrician asked Mary and Brandon if they had noticed this salty build-up before. “That must be why his skin tastes a little salty when I kiss him on the cheek,” Mary replied. The pediatrician then ordered a sweat chloride test which came back at 60 millimoles per liter.
Sam is suffering from Cystic Fibrosis (CF). CF is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 Worldwide). About 1000 new cases of cystic fibrosis are diagnosed each year. Moreover, more than 70% of patients are diagnosed by age two, and more than 45% of the CF patient population is age 18 or older. The disease is very life threatening. In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s, and beyond. The average life span is about 38 if in good health.
The driving factor behind CF is the gene cycstic fibrosis transmembrane conductance regulator or CFTR for short. The gene is autosamal recessive because it is not based on the sex of the individual, and a child can only inherit one gene from the parent. A patient can receive CF if both parents carry the CF gene. So the child has a 25% chance of having CF, 50% chance of carrying the CF gene, and a 25% chance of having neither. The gene affects the way how chloride, used in salt, is spread across cell membranes, causing mucus, usually thin and water-like, to become thick (1). In addition, the disease also increases the amount of goblet cells, which in turn causes hyperplasia or metaplasia (5). These abnormally thick secretions affect a variety of glands (exocrine) and cause inflammation, blockage, and excess secretion (3). Such secretions include: saliva, sweat, tears, or primarily anything producing mucus, and this includes anything internal or external. The most affected glands are the glands in the lung, and the sweat glands on the skin. This also contributes to green and viscid color of the sputum, because the thick viscous mucus gets clogged up around the lungs and respiratory system, causing the patient to develop a violent cough, and have shortness of breath (2). When a patient has CF for an extended amount of time, it...