A‌‍‍‍‌‍‍‌‌‍‍‍‌‍‍‍‍‌‍‍ student post this as a discussion, please reply with 1 ref
A‌‍‍‍‌‍‍‌‌‍‍‍‌‍‍‍‍‌‍‍ student post this as a discussion, please reply with 1 ref
A‌‍‍‍‌‍‍‌‌‍‍‍‌‍‍‍‍‌‍‍ student post this as a discussion, please reply with 1 reference. Cystic fibrosis is the most common autosomal-recessive disease and affects the respiratory, gastrointestinal (GI), and endocrine systems (Garzon et al., 2020). Cystic fibrosis is the result of a mutation of the CF transmembrane conductance regulator protein on chromosome 7 (Garzon et al., 2020). This defect causes airway surface liquid depletion, ineffective mucociliary clearance and decreased ion transport (Garzon et al., 2020). It is most common in Caucasian children with an incidence of 1 in 4,000 (Garzon et al., 2020). The incidence in African American children is 1 in 15,000 and in Latin American children 1 in 4,000 to 10,000 (Garzon et al., 2020). Physical exam findings will vary from child to child based on age and severity of disease (Garzon et al., 2020). During the newborn period, newborns may present with delayed meconium passage, meconium plug, jaundice that lasts longer than average, intestinal atresia, edema, and/or hypoproteinemia (Garzon et al., 2020). Acrodermatitis enteropathica can be present due to malabsorption while hemorrhagic disease of the newborn may be present due to vitamin K deficiency (Garzon et al., 2020). A meconium ileus is present in up to 10% of newborns with cystic fibrosis (Garzon et al., 2020). During infancy, the lungs will often become inflamed due to chronic lung infections leading to a cough and frequent bouts of bacterial pneumonia (Garzon et al., 2020). Other signs seen in infancy include failure to thrive, hypoproteinemia, hyperchloremic dehydration, abdominal distension, cholestasis, rectal prolapse, steatorrhea, distal intestinal obstruction syndrome, and hemolytic anemia (Garzon et al., 2020). In childhood, frequent and chronic respiratory infections continue along with bronchiectasis, nasal polyposis, and poorly controlled asthma (Garzon et al., 2020). GI symptoms in childhood include poor weight gain and growth, steatorrhea, chronic constipation, rectal prolapse, distal intestinal obstruction syndrome, idiopathic pancreatitis, and liver disease (Garzon et al., 2020). By adolescence, allergic bronchopulmonary aspergillosis can result due to the chronic infections along with pansinusitis, nasal polyposis, bronchiectasis and hemoptysis (Garzon et al., 2020). Osteoporosis, diabetes, and fertility issues are common in cystic fibrosis patients as well (Garzon et al., 2020). There are two main diagnostic tests for cystic fibrosis. Up to 60% of cystic fibrosis cases are identified on the newborn genetic screening done prior to discharge from the hospital after birth (Garzon et al., 2020). ‌‍‍‍‌‍‍‌‌‍‍‍‌‍‍‍‍‌‍‍Many providers will also offer pregnant women and their partners genetic screening to see if they are carriers for cystic fibrosis in the first trimester of pregnancy (Castellani et al., 2018). Sweat testing is the other diagnostic test available (Garzon et al., 2020). A sweat chloride concentration greater than 60mmol/L is highly suggestive of cystic fibrosis (Garzon et al., 2020). Differential diagnoses will depend on the symptoms the child is exhibiting if they were not diagnosed on the newborn genetic screen. In general, any child with symptoms suggestive of cystic fibrosis should have the sweat chloride test administered (Garzon et al., 2020). Practice guidelines were updated in 2018 for the management of cystic fibrosis and included several revisions and additions (Castellani et al., 2018). The updated guideline recommendations include annual fat-soluble vitamin testing due to the high incidence of malabsorption, screening early for colorectal cancer due to the higher-than-normal rates of colorectal cancer in cystic fibrosis patients, and mental health screening for all cystic fibrosis patients and their caregivers (Castellani et al., 2018). Due to the multiple system involvement with cystic fibrosis, it is recommended that the treatment plan be a multidisciplinary approach at a cystic fibrosis accredited center (Garzon et al., 2020). The main goal of treatment is to optimize lung function, prevent disease progression, and avoid complications (Garzon et al., 2020). Treatment includes inhaled dornase alfa to promote airway clearance, hypertonic saline to thin secretions, high dose ibuprofen and azithromycin to reduce chronic airway inflammation, and exogenous pancreatic enzyme replacement therapy with every meal. (Garzon et al., 2020). Percussion, exercise, and high-frequency chest wall oscillation all help facilitate secretion removal (Garzon et al., 2020). Lung transplant is a treatment option as well, but infrequently done in the United States (Castellani et al., 20218). Clearly, interprofessional collaboration is vital for successful management of cystic fibrosis. In addition to the medical team, social workers, behavioral health specialists, physical therapists and respiratory therapists are important collaborators (Mueller et al., 2020). Social workers and/or case managers specifically can help refer the patient and their family to useful resources including mental health services to navigate the challenging diagnosis and management of the disease (Mueller et al., 2020). When appropriate, collaboration with hospice and palliative care teams should be done as well (Castellani et al., 2018)‌‍‍‍‌‍‍‌‌‍‍‍‌‍‍‍‍‌‍‍.

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