Case Study Scenario 2: Cystic Fibrosis

A mother brings her 6-month-old daughter to the HCP for evaluation of possible colic. The mother says the baby has had many episodes of crying after eating and, despite having a good appetite, is not gaining weight. 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 work-up reveals a diagnosis of cystic fibrosis. The mother relates that her 23-month-old son has had multiple episodes of “chest congestion” 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 NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes.

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Cystic fibrosis is an autosomal recessive inherited disease. According to McCance & Huether (2019), approximately 1 in 25 whites carry one copy of an allele that can cause cystic fibrosis. Because an individual must be homozygous for a recessive allele to express the disease, the carriers are phenotypically normal (p. 151). The cystic fibrosis gene is located on chromosome 7. More than 2000 different variants of this gene are known to produce cystic fibrosis. The cystic fibrosis transmembrane conductance regulator gene mutation results in the abnormal expression of cystic fibrosis transmembrane conductance regulator protein (McCance & Huether 2019, p.1220). Cystic fibrosis newborn screening is the optimal method to diagnose the disease during the asymptomatic period. The early diagnosis is associated with improved physical development and slower lung deterioration due to the lower frequency of infections (Olszowiec-Chlebna et al., 2021).  NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes

In this scenario, the mother believes the baby may be suffering from colic due to crying after eating. With cystic fibrosis presentation of oily-looking stool and abdominal distention are early stages of the disease. According to McCance & Huether (2019), 85% of individuals with cystic fibrosis, present early in life with pancreatic insufficiencies, which causes nutrient malabsorption and failure to thrive in children (p. 1380) NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes.

The mother makes a comment to the doctor that the baby tasted salty when kissed. This happens due to the dysfunction of the cystic fibrosis transmembrane regulator protein results in altered sodium, chloride, and potassium reabsorption, all of which remain external to the surface of the epithelium membrane with reduced clearance from tubule structures lined by affected epithelia (McCance & Huether, 2019, p. 1380).

This deficiency in chloride ions leads to a salt imbalance that results in secretions of abnormally thick, dehydrated mucus. Some of the digestive organs, particularly the pancreas, becomes obstructed, causing malnutrition, and the lungs become clogged with mucus, making them highly susceptible to bacterial infections, especially Pseudomonas (McCance & Huether, 2019, p. 151). The typical features of cystic fibrosis lung disease are mucus plugging, chronic inflammation, and chronic infection of the small airways (McCance & Huether, 2019, p. 151).

Clinical manifestations involve the respiratory and gastrointestinal systems. Respiratory symptoms include persistent cough or wheeze, excessive sputum production, and recurrent or severe pneumonia. Digital clubbing may appear in the early stages; in the latent stage development of the barrel chest, or persistent crackles occur (McCance & Huether, 2019, p. 1221). Approximately 8% of CF patients will present with haemoptysis during a pulmonary exacerbation, and it is speculated that 1 in 100 CF patients will have a massive haemoptysis episode each year, with an associated two‐year mortality risk ranging from 5.8% to 16% (Gavioli & Aung, 2020) NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes.

References 

Gavioli, E., & Aung, C. C. (2020). Haemoptysis management in cystic fibrosis: A case report and treatment pathway. Journal of Clinical Pharmacy and Therapeutics, 45(4), 845-847. http://doi:10.1111/jcpt.13179

McCance, K. L., & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children. St. Louis, MO: Elsevier Mosby.

Olszowiec-Chlebna, M., Mospinek, E., & Jerzynska, J. (2021). Impact of newborn screening for cystic fibrosis on clinical outcomes of pediatric patients: 10 years’ experience in Lodz Voivodship. Italian Journal of Pediatrics, 47(1). http://doi:10.1186/s13052-021-01040-5

Week 1: Cellular Processes and the Genetic Environment

One of the more common biology analogies refers to cells as the “building blocks” of life. This rightfully places an emphasis on understanding cells, cellular behavior, and the impact of the environment in which they function.

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Discussion: Alterations in Cellular Processes

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