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Posted: December 2nd, 2022

Cystic fibrosis is a disease that affects multiple organ systems

Cystic fibrosis is a disease that affects multiple organ systems, the most important of which are the gastrointestinal and respiratory systems (McCance & Huether, 2019). This disease is caused by a mutation in the CFTR protein, which is required for chloride and sodium regulation. In this case, the 6-month-old baby has salty skin, which is one of the hallmark symptoms of CF. Because of a CFTR gene malfunction, chloride channels do not open properly, preventing proper chloride secretion from the body. Sodium is attracted to chloride, causing a buildup of sodium; this is why a person with CF’s sweat is very salty. This same concept occurs throughout the body, resulting in gastrointestinal obstructions, mucus buildup, and chronic infections in the lungs (McCance & Huether, 2019). In this scenario, the baby is also not gaining weight, which can be explained by pancreatic insufficiency, which is usually caused by pancreatic obstruction. The primary cause of nutrient malabsorption and failure to thrive in children with CF is pancreatic insufficiency (McCance & Huether, 2019). Pancreatic enzymes for digestion, lung infection prevention, chest physical therapies, and stool softeners are among the first-line treatments (Cystic Fibrosis Treatment, n.d.).
Because cystic fibrosis is an autosomal recessive disorder, both parents must have the CF gene mutation for their child to have the disease (Mayo Clinic, n.d.). Because both of the children in this scenario have CF, it is critical to explain to the mother that the father carries the CF gene mutation as well, and the chances of another child developing the disease are 25%. It is also important to note that even if a child does not have the disease, he or she is likely to be a carrier of the disease; thus, the disease may be acquired by the child’s future children if the father has the recessive gene as well. It is critical to explain the various circumstances that may occur to the mother so that she can carefully weigh her options.

Cystic Fibrosis (CF) (n.d.). https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/diagnosis-treatment/drc-20353706 External website links
Treatment for Cystic Fibrosis (n.d.). https://www.nhlbi.nih.gov/health/cystic-fibrosis/treatment External website links
K. L. McCance and S. E. Huether (2019). Pathophysiology is the biological basis of disease in both adults and children (8th ed.). Mosby/Elsevier, St. Louis, MO.

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