Cystic Fibrosis (CF) is a genetically inherited disease of the exocrine glands affecting several systems throughout the body, but mainly the respiratory system and gastrointestinal (GI) tract (McCance & Huether, 2019, pg. 1330). CF is an autosomal recessive disease disrupting the CF transmembrane regulator protein located on the epithelial membrane on cells of the airway lining, pancreas, digestive tract, bile ducts, sweat ducts, and others. This protein is involved in chloride and bicarbonate transport toward the airway surface and also affects the flow of sodium through the epithelial sodium channel, resulting in a fluid and salt imbalance within and outside the cell (Kulkarni et al., 2019). As a result, the pancreas, lungs, and other organs are coated with a thickened, sticky mucus from an increased number and size of goblet cells (McCance &Huether, 2019, pg. 1221).
The patient in the case study suffers from abdominal distention and high sodium concentration in sweat which are known clinical manifestations of CF. The abdominal distention is due to pancreatic insufficiency, which causes malabsorption. This is caused by blockage of pancreatic ducts from mucus. The salty taste of the patient’s skin is a result of increased chloride and sodium in the sweat due to the dysfunction of sodium and chloride resorption.
Characteristics such as age and race are considered when assessing a patient as it is the most common life-shortening genetic disease affecting Caucasians and is usually diagnosed within the first year of life (Coverstone & Ferkol, 2021). As CF is a genetic disease, the mother should be counseled on the risks of future children also having CF. If the sibling had not been assessed for CF, assessment and genetic testing for CF should be done considering his history of pulmonary issues.
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