Cystic Fibrosis (CF) is a genetic metabolic disorder that primarily affects the body's secretory system. This condition leads to abnormal secretion of mucus, sweat, and digestive enzymes, resulting in excessively thick substances that obstruct organ function. In Taiwan, the prevalence of this disease is relatively low, but it has a profound impact on the quality of life and prognosis of patients.
This disease mainly affects the lungs and digestive system, but it can also involve the reproductive system and other tissues. Symptoms of CF often manifest in childhood, although some patients may not be diagnosed until adulthood. Recent medical advancements have significantly improved patient prognosis, but long-term treatment and lifestyle management are necessary to control symptoms. This article will comprehensively analyze various aspects of Cystic Fibrosis, from its causes and symptoms to diagnosis and treatment options.
The fundamental cause of cystic fibrosis lies in CFTR gene mutations. This gene is responsible for regulating the chloride ion channels on cell surfaces; when mutations occur, the components of mucus, sweat, and digestive enzymes become abnormally thick. This substance obstructs organ ducts, leading to chronic infections and tissue damage.
The inheritance pattern is autosomal recessive, meaning that patients must inherit one mutated gene from each parent. Risk factors include:
Symptoms vary by age and disease stage. Infants may experience intestinal obstruction (meconium ileus) within months of birth, leading to acute symptoms such as abdominal distension and vomiting. Children with CF commonly have recurrent respiratory infections, presenting as chronic cough, difficulty breathing, and wheezing.
Digestive system symptoms include:
Adult patients may develop complications such as diabetes or liver fibrosis, with symptoms including excessive thirst, polyuria, and unexplained weight loss. Long-term lung damage may lead to clubbing (digital clubbing) and other peripheral circulation abnormalities.
The diagnostic process typically involves multiple layers of testing. Newborn screening measures the concentration of immunoreactive trypsinogen through heel prick blood tests; if abnormal, further genetic testing is conducted. Genetic analysis can identify over 300 known mutations of the CFTR gene, with the F508del mutation accounting for more than 70% of global cases.
Among functional tests, sweat testing is the gold standard for diagnosis. If the sodium ion concentration in the patient's sweat exceeds 60 mEq/L, CF is highly suspected. Imaging studies such as chest X-rays or CT scans can observe pulmonary fibrosis and cystic changes.
Digestive system evaluations require abdominal ultrasound to assess pancreatic structure and measure fecal fat content. Some patients may need endoscopic biopsies to determine the extent of damage to the digestive glands.
The treatment goal is to delay organ damage and prevent infections. Respiratory management includes daily physical therapy (such as chest oscillation devices) to clear thick secretions. Antibiotic treatment is divided into intravenous medications for acute exacerbations and long-term oral medications for prevention.
Nutritional support is central to treatment, with patients requiring a high-calorie diet supplemented with pancreatic enzyme replacements to improve absorption. Emerging drugs such as CFTR modulators (e.g., Ivacaftor) can correct genetic defects and significantly improve lung function indicators. Liver or lung transplantation is the last resort for end-stage patients, applicable in cases of severe organ failure.
The triple therapy (Elexacaftor/Ivacaftor combination) launched in the 2020s has benefited 75% of patients with specific genotypes, as this medication can restore CFTR protein function and improve mucus secretion environments. Drug treatment must be accompanied by regular lung function tests 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. Newborn screening can detect cases early and initiate treatment promptly.
Daily preventive measures include:
A high-calorie, high-protein diet is key to delaying disease progression. Daily caloric needs may reach 150% of normal values, and supplementation of fat-soluble vitamins A, D, E, and K is necessary. Nutritionists should adjust formulas based on weight gain curves, and severely malabsorbing patients may require total parenteral nutrition (TPN).
If the following symptoms occur, seek medical attention immediately:
Patients under regular follow-up who exhibit the following abnormal indicators should seek immediate medical attention:
Families with suspected genetic risks should receive genetic counseling before pregnancy, assessing risks through amniocentesis or non-invasive genetic testing. Early diagnosis allows patients to begin foundational treatment before symptoms manifest, significantly improving long-term prognosis.
New cystic fibrosis translational modulators (such as Ivacaftor) are primarily designed for specific gene mutations, requiring genetic testing to confirm whether the patient possesses specific mutation types (e.g., G551D). Physicians will comprehensively assess the patient's age, lung function, and genotype, and monitor physiological indicators after treatment to adjust the treatment plan.
How should daily diet adjustments be made to improve nutritional absorption issues?Patients often experience malabsorption due to pancreatic secretion abnormalities; it is recommended to increase high-calorie, high-protein foods, along with fat-soluble vitamin supplements. Physicians may prescribe pancreatic enzyme preparations to assist digestion and recommend smaller, more frequent meals to reduce gastrointestinal burden, avoiding high-fiber or gas-producing foods.
What is the impact of regular exercise on the respiratory function of cystic fibrosis patients?Moderate aerobic exercise (such as swimming or jogging) can enhance lung capacity and reduce mucus accumulation, but high-intensity activities that cause wheezing or fatigue should be avoided. It is advisable to exercise after respiratory therapy and develop a personalized exercise plan under the guidance of a professional physical therapist to reduce the risk of pulmonary complications.
What screening timing should undiagnosed individuals consider if there is a family history of this disease?If there are confirmed patients in the family, their siblings should undergo genetic screening immediately after birth. Asymptomatic individuals with a family history can confirm whether they are carriers through genetic testing and are advised to discuss risks with a genetic counselor before planning pregnancy, facilitating early treatment and family health management.
Is long-term antibiotic treatment likely to lead to drug resistance?Long-term use of antibiotics can indeed lead to bacterial resistance; therefore, physicians will select the most effective medications based on sputum culture results, along with air washing or physical therapy to reduce antibiotic dependency. Patients must strictly adhere to medication schedules and dosages and regularly monitor resistance indicators.
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