1. M.T.'s parents would like to have another child. What is the probability that a future child would have cystic fibrosis? (Hint: What is the genetic status of each parent?) In order for M.T. to have cystic fibrosis, it means that one or both of her parents have to be carriers of the cystic fibrosis gene. According to California Department of Public Health (2011), “When one parent is a CF carrier, there is a 50% chance with each pregnancy that the baby will also be a CF carrier. If both parents are found to be carriers, there is a 25% chance of having a child with CF in each future pregnancy”.
2. Describe the basic pathophysiology of cystic fibrosis and briefly describe the various effects in the body.
Cystic fibrosis is a genetic disorder and several mutations to the CFTR gene have been identified and relate to a protein involved in chloride ion transport in the cell membrane (VanMeter & Hubert, 2014). According to VanMeter & Hubert (2014), this defect in the exocrine glands results in abnormally thick secretions, also known as tenacious mucus. The effects of cystic fibrosis are seen in the pancreas and lungs where the sticky mucus blocks passages (VanMeter & Hubert, 2014).
4.Explain the possible effects on airflow of mucus obstructions in the lungs.
Mucus obstruction, in the lungs, obstructs airflow in the bronchioles and small bronchi which causes air trapping, also known as atelectasis, resulting in permanent damage to the bronchial walls (VanMeter & Hubert, 2014).
5. Explain why M.T. has frequent infections.
According to VanMeter & Hubert (2014), “stagnant mucus is an excellent medium for bacterial growth”. Due to the collection of stagnant mucus in the lung tissue infections are common and add to the progressive destruction of lung tissue (VanMeter & Hubert, 2014). According to VanMeter & Hubert (2014), organisms frequently causing infection in cystic fibrosis patients include P. aeruginosa and S. aureus.
6. M.T.'s parents are arranging a dental appointment for her. Describe any possible limitations in arranging the appointment and list what precautions should be taken when she arrives for the appointment.
The parents could have trouble finding a dentist who wants to work on a child with cystic fibrosis because they appear sick in their normal everyday lives. However, unless the child has upper respiratory infection it would seem unlikely that a dentist would be unable to safely perform dental procedures. Most children who have cystic fibrosis are on a course of antibiotics, however, if they are not, it may be necessary for the child to receive prophylactic antibiotics prior to a dental procedure in order to li it or reduce the risk of infection. Also, the dental staff would want to utilize standard precautions such as handwashing, face masks, et cetera, in order to also help reduce the risk of infection for a child who has cystic fibrosis.
7. State several criteria that would be helpful in maintaining adequate nutrition for M.T.
To maintain nutrition for M.T. it would be vital to provide replacement therapy for her pancreatic enzymes and if needed to provide bile salt replacements, which are given with meals and snacks to improve general health, improve digestion and to allow resistance to infection (VanMeter &
Hubert, 2014). Along with these replacements M.T. should also have a well-balanced diet, high in protein, low in fat (VanMeter & Hubert, 2014). The suggested total dietary intake is much greater than the suggestion for normal individuals in order to allow for some malabsorption (VanMeter & Hubert, 2014).
8. If M.T. does not take pancrelipase regularly, she has steatorrhea (frequent loose, fatty stools). Explain why this occurs and how it might affect her respiratory function if prolonged.
According to the U.S. National Library of Medicine (2012), pancrelipase is given to improve the digestion of food in individuals who do not produce enough pancreatic enzymes. M.T. would have the frequent loose, fatty stools because the lack of pancrelipase would prohibit her body from digesting her foods properly and result in fat being expelled into the stool. If she is having frequent diarrhea, she would be at risk for fluid volume deficit which would make her at risk for hypoxia due to the lack of oxygen being carried through the body.
9. Using your basic knowledge of physiology, describe the possible effects on M.T. if she fails to digest and absorb adequate amounts of protein, calcium, vitamin D, vitamin K, and iron.
If M.T. fails to digest and absorb adequate amounts of protein could lead to muscle wasting and weakness, whereas inadequate amounts of calcium can lead to lead to issues with the bones (Van Meter & Hubert, 2014). Inadequate absorption of vitamin D also will affect the strength of bones and can contribute to muscle weakness as well (Van Meter & Hubert, 2014). Deficiencies in vitamin K can cause deadly cardiac effects such as bleeding and arrhythmias along with muscle weakness (Van Meter & Hubert, 2014). Inadequate amounts of iron absorption can lead to conditions such as iron deficiency anemia (Van Meter & Hubert, 2014). It appears that a lack of many of these nutrients will affect the bones and muscles in the body and with the heart being a muscle, not only would M.T. be at risk for musculoskeletal effects but cardiac effects as well.
10. Explain why M.T. is likely to develop bronchiectasis at a later time, and describe the significant signs of its development.
According to Van Meter & Hubert (2014), Bronchiectasis is seen frequently, along with emphysematous changes, as fibrosis and obstructions advance. According to the American Lung Association (2015), significant signs of developing bronchiectasis include: coughing up yellow or green mucus every day, shortness of breath that worsens during exacerbations, feeling run down or tired especially during exacerbations, fevers and/or chills usually developing during exacerbations, wheezing, and hemoptysis.