Cystic Fibrosis: A Case Study
CF is an autosomal recessive disorder caused by a mutation of the gene that encodes for a chloride channel called the cystic fibrosis transmembrane conductance regulator (CFTR). In ductal epithelial cells, CFTR is highly expressed and functions to transport fluid and anions into the lumen. Dysfunction of the CFTR gene leads to a decrease in luminal fluid volume and decreased pH, resulting in protein precipitation within the ductal lumen and loss of normal acinar cell function. Estimated gene frequency of cystic fibrosis varies in different ethnic groups with highest incidence in Caucasians (1 in 2,500). Approximate incidence of CF in South Asians immigrants settled in UK is about 1:10,000 to 1:12,000. CF is one of the under diagnosed diseases
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in Pakistan. According to the CF Foundation's National Patient Registry, the median age of survival for a person with CF is currently 33.4 years with optimal diagnosis and management.
Pancreatic insufficiency is the most common gastrointestinal complication in Cystic Fibrosis, affecting 85% of patients. Major consequences are due to fat malabsorption secondary to decreased pancreatic enzymes production, putting the patients at risk of developing steatorrhea, malnutrition and fat-soluble vitamins deficiency. Patients with CF have been categorized previously as pancreatic sufficient (10 to 15 percent) and pancreatic insufficient (the remainder) [3]. It is now clear that pancreatic function in CF varies along a spectrum from normal to severely deficient. Pancreatic insufficiency generally develops within the first few months of life in patients with two "severe" mutations of the CF transmembrane conductance regulator (CFTR) gene, including F508del, N1303K, G542X, and G551D. Those patients who are PI (pancreatic insufficient) have more severe lung disease, malnutrition, and liver disease. PI patients require lifelong pancreatic enzyme supplements. Patients who are pancreatic sufficient (PS) have an increased risk of pancreatitis. Thus, knowing if a patient with CF is PI or PS is important in providing prognostic information to the patient and family and in clinical care and influences the course of
management.
in Pakistan. According to the CF Foundation's National Patient Registry, the median age of survival for a person with CF is currently 33.4 years with optimal diagnosis and management.
Pancreatic insufficiency is the most common gastrointestinal complication in Cystic Fibrosis, affecting 85% of patients. Major consequences are due to fat malabsorption secondary to decreased pancreatic enzymes production, putting the patients at risk of developing steatorrhea, malnutrition and fat-soluble vitamins deficiency. Patients with CF have been categorized previously as pancreatic sufficient (10 to 15 percent) and pancreatic insufficient (the remainder) [3]. It is now clear that pancreatic function in CF varies along a spectrum from normal to severely deficient. Pancreatic insufficiency generally develops within the first few months of life in patients with two "severe" mutations of the CF transmembrane conductance regulator (CFTR) gene, including F508del, N1303K, G542X, and G551D. Those patients who are PI (pancreatic insufficient) have more severe lung disease, malnutrition, and liver disease. PI patients require lifelong pancreatic enzyme supplements. Patients who are pancreatic sufficient (PS) have an increased risk of pancreatitis. Thus, knowing if a patient with CF is PI or PS is important in providing prognostic information to the patient and family and in clinical care and influences the course of
management.