Cystic Fibrosis case scenario

Cystic Fibrosis case scenario

Case Study

            A mother brings her 6-month-old daughter to the HCP to evaluate for possible colic. The mother says the baby has had many episodes of crying after eating and is not gaining weight despite having a good appetite. The mother says the baby’s belly “gets all swollen sometimes.” The mother says the baby tastes “salty” when the mother kisses the baby. Further workup reveals a diagnosis of cystic fibrosis. The mother relates that her 23-month-old son has had multiple “chest congestion” episodes and was hospitalized once for pneumonia. The mother wants to know what cystic fibrosis is, and she also wants to know if she should have any more children.

Case Study Examination 

            Based on the clinical presentations the patient is manifesting and their medical history, the patient has cystic fibrosis. The condition is congenital, resulting from inheriting a defective pair of the CF gene (López-Valdez et al., 2021). Each parent must contribute one copy of the CF gene for the disease to be transmitted to the offspring. The cellular mechanism of cystic fibrosis encompasses the onset of an impairment that impedes the effective function of cystic fibrosis transmembrane conductance regulator protein (CFTR)—the resulting functional impairments in the aforementioned protein lead to the trapping of chloride ions inside cells (Fukuda & Okiyoneda, 2020). Consequently, anomalies affecting ion transport and water absorption occur, orchestrating the dehydration of the airway surface liquid. The alteration of the airway surface liquid through dehydration contributes to the onset of mucus composition alteration and affects the body’s defense against bacterial infections (do Carmo et al., 2021). In the case study, the baby tastes salty due to the trapping of chloride ions between cells. Impairments affecting chloride absorption trigger the loss of sodium ions via the skin surface, hence the salty taste. Cystic fibrosis mediates the accumulation of sticky mucus on the lungs and airways, which leads to chest congestion. The inability to gain weight by the patient results from the accumulation of sticky mucus, which serves as a barrier in the gastrointestinal tract against the absorption of important nutrients, thus causing poor digestion. These sticky secretions are also responsible for the patient’s swollen belly. The heritable genetic factors encoding for cystic fibrosis mediate the onset of the secretion of sticky mucus which clogs major body organs. Due to the clogging implications of the sticky secretions, the patient may present with abdominal bloating, poor weight gain patterns, wheezing, coughing, and chest infections.

Kelsie G

Main Post

Cystic Fibrosis is an autosomal recessive condition that affects many organs, especially the lungs. In cystic fibrosis, the cystic fibrosis membrane conductance regulator (CFTR) malfunctions which causes a disrupted ion and fluid flux through the epithelium in the airway. This results in the production of thick mucus. Thick mucus lining the airway results in the obstruction of medium and small bronchioles and bronchiectasis which promotes inflammation and bacterial infections. These could continue and cause the patient to have respiratory insufficiency and die. (Di Gioia et al., 2022) Cystic Fibrosis begins in early childhood and can seem to have normal lung function but bronchiectasis can be seen on a CT. One-third of kids by the age of 6 will have structural lung damage. Prevention of the development of bronchiectasis is the therapeutic goal for kids. (McNally et al., 2023) When it comes to genetics, a person must have mutations of the CFTR protein from both their mom and dad in order to get CF. It is recommended that pregnant women or women planning a pregnancy should be offered carrier screening to see if they have a child with CF. (Centers for Disease Control and Prevention, 2022) If both parents give a child the mutation for CF, there is a good chance the next child will have the disease as well.

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