Cystic Fibrosis (CF) is a hereditary metabolic disorder primarily affecting the body's excretory system. This disease causes abnormal secretion of mucus, sweat, and digestive enzymes, leading to the formation of excessively viscous substances that block organ functions. In Taiwan, the prevalence of this disease is relatively low, but its impact on patients' quality of life and prognosis is profound.
This condition mainly affects the lungs and digestive system but can also involve the reproductive system and other tissues. Symptoms of CF often manifest in childhood, but some patients may not be diagnosed until adulthood. Recent medical advances have significantly improved patient prognosis, but long-term treatment and lifestyle management are necessary to control symptoms. This article will comprehensively analyze CF from causes, symptoms, diagnosis to treatment options.
The fundamental cause of cystic fibrosis is CFTR gene mutation. This gene regulates chloride ion channels on the surface of cells. When mutated, the composition of mucus, sweat, and digestive enzymes becomes abnormally viscous. These substances block organ ducts, leading to chronic infections and tissue damage.
The inheritance pattern is autosomal recessive, meaning patients must inherit one mutated gene from each parent. Risk factors include:
Symptoms vary depending on age and disease progression. Infants may experience intestinal obstruction (meconium ileus) within months of birth, leading to abdominal distension, vomiting, and other acute symptoms. Children often have recurrent respiratory infections, presenting as chronic cough, difficulty breathing, and wheezing.
Digestive symptoms include:
Adult patients may develop diabetes or liver fibrosis, with symptoms such as thirst, polyuria, and unexplained weight loss. Long-term lung damage can lead to peripheral circulatory abnormalities such as digital clubbing.
The diagnostic process typically involves multiple levels of testing. Neonatal screening involves measuring trypsinogen levels via heel prick blood tests; abnormal results prompt further genetic testing. Genetic analysis can identify over 300 known mutations in the CFTR gene, with the F508del mutation accounting for over 70% of cases worldwide.
Sweat test is the gold standard for diagnosis. A sweat chloride concentration exceeding 60 mEq/L strongly suggests CF. Imaging studies such as chest X-ray or CT scan can reveal pulmonary fibrosis and cystic changes.
Assessment of the digestive system includes abdominal ultrasound to evaluate pancreatic structure and stool fat content. Some patients may require endoscopic biopsies to assess the extent of glandular damage.
The goal of treatment is to delay organ damage and prevent infections. Respiratory management includes daily physical therapy (such as chest physiotherapy) to clear viscous secretions. Antibiotic therapy involves acute intravenous medications and long-term prophylactic oral drugs.
Nutritional support is central to treatment, with patients needing high-calorie diets combined with pancreatic enzyme supplements to improve absorption. Emerging drugs such as CFTR modulators (e.g., Ivacaftor) can correct the genetic defect, significantly improving lung function. Lung or liver transplantation is a last resort for end-stage patients with severe organ failure.
In the 2020s, triple therapy (Elexacaftor/Ivacaftor combination) has benefited 75% of patients with certain genotypes, repairing CFTR protein function and improving mucus secretion environment. Drug therapy requires regular lung function testing and biochemical monitoring.
While CF cannot be prevented genetically, prenatal genetic counseling can assess family risk. Carrier screening is recommended for couples with a family history of CF, using genetic analysis to predict the likelihood of offspring being affected. Neonatal screening can detect cases early and initiate treatment promptly.
Preventive measures include:
High-calorie, high-protein diets are key to delaying disease progression. Daily caloric intake may reach 150% of normal, with supplementation of fat-soluble vitamins A, D, E, and K. Nutritionists should adjust formulas based on growth curves, and patients with severe malabsorption may require parenteral nutrition (TPN).
If you experience the following symptoms, seek medical attention immediately:
For patients under regular follow-up, immediate medical attention is necessary if there are abnormal indicators such as:
Families with suspected genetic risk should undergo genetic counseling before pregnancy, using amniocentesis or non-invasive genetic testing to assess risk. Early diagnosis allows patients to start basic treatment before symptoms appear, significantly improving long-term prognosis.
New CFTR modulators (such as Ivacaftor) are designed for specific gene mutations. Patients need genetic testing to confirm whether they carry particular mutations (e.g., G551D). Doctors will evaluate based on age, lung function, and genotype, and monitor physiological changes after treatment to adjust the therapy plan.
How should daily diet be adjusted to improve nutritional absorption issues?Due to pancreatic secretion abnormalities, patients often experience malabsorption. It is recommended to increase high-calorie, high-protein foods, along with fat-soluble vitamin supplements. Pancreatic enzyme preparations may be prescribed to aid digestion. Eating small, frequent meals can reduce gastrointestinal burden, and avoiding high-fiber or gas-producing foods is advised.
What is the impact of moderate exercise on respiratory function in CF patients?Moderate aerobic exercise (such as swimming or jogging) can enhance lung capacity and reduce mucus buildup but should avoid high-intensity activities that cause wheezing or fatigue. It is recommended to perform exercise after respiratory therapy and under the guidance of a physical therapist to reduce the risk of pulmonary complications.
When should family members with a family history of CF, but without a confirmed diagnosis, undergo screening?If there is a confirmed case in the family, siblings should undergo genetic testing soon after birth. Asymptomatic carriers can be identified through genetic testing. It is advisable to discuss risks with a genetic counselor before planning pregnancy to facilitate early intervention and family health management.
Does long-term antibiotic use increase the risk of drug resistance?Prolonged use of antibiotics can lead to bacterial resistance. Therefore, physicians select the most effective drugs based on sputum culture results and combine physical therapies like airway lavage to reduce antibiotic dependence. Patients should strictly follow prescribed schedules and doses and undergo regular monitoring of resistance indicators.
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