Essay On Cystic Fibrosis
Cystic fibrosis
What is cystic fibrosis?
Cystic fibrosis is genetic disorder characterized by abnormal chloride channels. This characteristically results in disease affecting multiple organ systems, most notably the lungs and gastrointestinal tract. Lung disease is usually manifested as obstructive lung disease due to bronchiectasis. Paints often develop difficulty breathing, cough, and wheezing. The pancreas is also frequently damaged in cystic fibrosis, which leads to recurrent pancreatitis, abdominal pain, diabetes, and malabsorption of nutrients.
Patients that do not receive treatment typically progress and develop end-stage lung and pancreatic disease that may require organ transplantation. Due to the importance of this condition,
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Cystic fibrosis most commonly affects Caucasians, with a prevalence of about 1:3000 persons in Caucasian Americans. The disease is frequently becoming recognized in other populations such as Hispanics and Native Americans. As screening improves and disease recognition increases, the prevalence of disease is anticipated to rise. Patients with cystic fibrosis typically require referral to a pulmonary medicine specialist.
What are the symptoms and signs of cystic fibrosis?
Cystic fibrosis causes protean manifestations, but the most common include lung and gastrointestinal symptoms.
Respiratory symptoms often involve recurrent cough that eventually becomes persistent and productive of mucus. Patients also typically have wheezing and may complain of shortness of breath.
Pancreatic insufficiency is usually characterized by:
• Fat malabsorption
• Diarrhea
• Impaired growth
• Vitamin deficiencies – vitamins A, D, E, and
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• Lung disease is usually manifested as obstructive lung disease due to bronchiectasis. Patients often develop difficulty breathing, cough, and wheezing.
• Pancreatic disease manifests as recurrent pancreatitis, abdominal pain, diabetes, and malabsorption of nutrients.
• Cystic fibrosis if often identified during newborn screening programs in the United States. Some cases are missed and present during older age.
• The diagnosis of cystic fibrosis requires symptoms affecting at least one organ system and evidence of abnormal CFTR function (sweat chloride tests or genetic testing).
• Patients with certain mutations found on CFTR genotyping may benefit from treatment with Kalydeco (ivacaftor) or Orkambi (lumacaftor-ivacaftor).
• DNase I (dornase alfa) is typically recommended for children with moderate to severe lung disease.
• Chronic therapy with hypertonic saline, physiotherapy, and the antibiotic Zithromax (azithromycin) often help improve pulmonary symptoms. Short-acting bronchodilators such as ProAir or Ventolin (albuterol) are recommended prior to these
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