E84.1

Clinical Causes: Genetic mutation: CF is caused by mutations in the CFTR gene, which affects chloride channels in the cells lining various organs. Inherited trait: It is passed from parents to children in an autosomal recessive pattern, meaning a person must inherit two copies of the defective gene to develop the disease. Altered mucus production: The mutation results in thick, sticky mucus that obstructs the normal functioning of the intestines and other organs.

Key Symptoms: Abdominal pain and bloating Chronic diarrhea or greasy, bulky stools (steatorrhea) Poor weight gain and growth despite adequate nutrition Nausea and vomiting Constipation or intestinal blockage episodes Nutritional deficiencies due to malabsorption Delayed or abnormal intestinal motility Rectal prolapse in some cases

Diagnosis Path: Sweat chloride test: Measures salt levels in sweat; elevated levels are indicative of CF. Genetic testing: Identifies mutations in the CFTR gene. Stool studies: Assess fat content and nutritional absorption. Imaging tests: X-rays or ultrasounds to visualize the intestines and identify blockages or abnormalities. Endoscopy or biopsy: Occasionally used to examine intestinal tissue directly.

Treatment Protocols: Pancreatic enzyme replacement therapy (PERT): To aid digestion and nutrient absorption. Nutritional support: High-calorie diets, vitamin supplements, and sometimes feeding tubes. Medications: To reduce intestinal inflammation, manage infections, and enhance motility. Physiotherapy: Chest physiotherapy to clear lung mucus, which often coexists with intestinal issues. Surgical intervention: In cases of severe bowel obstruction or other complications. Regular monitoring: Ongoing assessment by a multidisciplinary team to tailor treatment plans.