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Posted: November 30th, 2022

A mother brings her 6-month-old daughter to the HCP

A mother brings her 6-month-old daughter to the HCP for possible colic evaluation. According to the mother, the baby has had numerous episodes of crying after eating and, despite having a healthy appetite, is not gaining weight. According to the mother, the baby’s belly “gets all swollen sometimes.” When the mother kisses the baby, she says it tastes “salty.” Further testing reveals that the patient has cystic fibrosis. According to the mother, her 23-month-old son has had several episodes of “chest congestion” and has been hospitalized once for pneumonia. The mother is curious about cystic fibrosis and whether or not she should have any more children.
Cystic fibrosis (CF) is an inherited disease that causes severe damage to the lungs, digestive system, and other body organs. Cystic fibrosis affects the cells responsible for the production of mucus, sweat, and digestive juices. Normally, these secreted fluids are thin and slippery. In people with CF, however, a faulty gene causes the secretions to become sticky and thick. Secretions, rather than acting as lubricants, clog tubes, ducts, and passageways, particularly in the lungs and pancreas (Anderson, 2018).
Cystic fibrosis is a monogenetic autosomal-recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Cystic fibrosis is caused by a malfunction of the CFTR protein, which functions as an exocrine gland chloride channel. The defect causes decreased chloride secretion, which leads to increased sodium absorption through epithelial sodium channels and the removal of water from secretions, making them abnormally viscous (Ferrel & Kosorok, 2019).
Obstruction, inflammation, infection (in the lungs and upper airways), tissue reorganization, and loss of function are all possible outcomes. The severity of the disease in each individual case is determined in part by variable organ sensitivity and the CFTR protein’s genetically determined residual function. Because of obstructive azoospermia, 99% of affected male patients are infertile, and 87% have exocrine pancreatic insufficiency.
I will inform the mother that cystic fibrosis is inherited in an autosomal recessive pattern; siblings of affected children have a 25% chance of being affected and should be tested for the disease regardless of symptoms. This means that both parents must carry at least one disease allele that their children can inherit.
A diagnosis of cystic fibrosis requires at least one clinical feature of the disease, as well as a family history of the disease and/or a positive neonatal screening test, as well as evidence of CFTR dysfunction. Once a diagnosis is made, the 23-month-old son sibling must be tested for the disease.
According to (Lim et al., 2018), there are approximately 30,000 people in the United States and approximately 70,000 people worldwide who have cystic fibrosis. Cystic fibrosis (CF) is a common and potentially fatal inherited disorder in Caucasian children, with an incidence of 1/2500 live births.
As an advanced nurse practitioner, I will explain to the mother that nutrition is important in cystic fibrosis because the disease is associated with higher energy consumption, special nutritional deficiencies with exocrine pancreatic insufficiency, and requires lifelong pancreatic enzyme supplementation, a high-calorie, high-fat diet with 110-220% of the recommended daily caloric intake for healthy people, which consists of 35-40% fat, and supplementation (A, D, E, and K).

Reference

Price JF, Lim MT, Wallis C. (2018). Cystic fibrosis diagnosis in London and South East England before and after newborn screening. 197-202 in Arch Dis Child, 9(9).

A. Munck. Nutritional considerations in cystic fibrosis patients. 4(2), 47-56. Expert Rev. Respir. Med. doi: 10.1586/ers.09.66.

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