What Are the Best Tips for Cystic Fibrosis Management?

Cystic fibrosis (CF) is a genetic disease that invades multiple organs. Mainly manifested as dysfunction of exocrine glands, hyperplasia of mucus glands, viscous secretions, and increased sodium chloride content in sweat. Clinically, there are a series of symptoms caused by viscous secretions in the glands of the lungs, airways, pancreas, intestines, biliary tract, vas deferens, cervix, etc., with respiratory damage being the most prominent.

Cystic pulmonary fibrosis

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Cystic fibrosis (CF) is a genetic disease that invades multiple organs. Mainly manifested as dysfunction of exocrine glands, hyperplasia of mucus glands, viscous secretions, and increased sodium chloride content in sweat. Clinically, there are a series of symptoms caused by viscous secretions in the glands of the lungs, airways, pancreas, intestines, biliary tract, vas deferens, cervix, etc., with respiratory damage being the most prominent.

Chinese name

Cystic pulmonary fibrosis

Foreign name

cysticfibrosis

Abbreviation

CF

main performance

Dysfunction of exocrine glands

Studies have suggested that the occurrence of CF is directly related to mutations in the transmembrane regulatory factor gene (CFTR), which directly leads to P. aeruginosa infection. The direct consequences of P. aeruginosa infection are airway mucus obstruction and progressive lung tissue necrosis.

Complications: If there is repeated hemoptysis when bronchiectasis is combined, cyanosis and clubbing may occur in the later stages. Health searches often include severe complications such as pulmonary heart disease and heart failure.

Cystic fibrosis is an autosomal recessive disease caused by a mutation in the CF gene on the seventh chromosome pair. The patient is homozygous and his parents are heterozygous. Half of patients' siblings may carry recessive genes, and 1/4 may get sick. Heterozygotes with recessive genes generally account for 2% to 5% of newborn babies, and about one in 2,000 to 2500 newborns can get the disease. The pathogenesis of cystic fibrosis exocrine gland dysfunction is unknown. According to research, the patient's epithelial cells have defective regulation of chloride ion channels; the water and electrolyte transmembrane barriers in the mucosal epithelium of the respiratory tract have obstacles; the increase in acid glycoprotein content in mucus gland secretions has changed the rheological properties of mucus, which may be secretion The reason why things become sticky.

The disease mainly occurs in white people, with a higher incidence in Northern Europe and the United States, fewer black people, and rare in Asians. The prevalence is inconsistent across regions, with a patient-to-newborn ratio of approximately 1: 500 to 1: 3500. Onset in infants and young children, mainly in children, about 3% diagnosed in adulthood, high mortality. In recent years, due to early diagnosis and reasonable and active treatment, the survival rate of patients has improved. At least 25% of patients can reach adulthood, and 9% are over 30 years old.

The lungs and digestive tract are the main affected organs. Viscous secretions block the bronchi and secondary infections are the main pathological basis of the respiratory system. At the time of birth, the patient found no pathological changes in the airways, bronchial gland hypertrophy and goblet cells degeneration in the early stages of onset. Later, the mucous glands of the bronchus secreted viscous secretions, which inhibited the mucous epithelium cilia and blocked mucus drainage. Bronchial obstruction causes atelectasis and secondary infections; repeated attacks produce extensive bronchitis, pneumonia, bronchiectasis, bronchiectasis, lung abscesses, and gradually cause extensive fibrosis and obstructive emphysema in the lungs. On the basis of the above pathology, obstructive and restrictive mixed respiratory damage is caused, which is manifested by insufficient pulmonary ventilation, uneven distribution of inhaled gas, imbalance of ventilation and blood flow, and diffuse dysfunction, and symptoms of hypoxia and carbon dioxide retention, and finally lead to Respiratory failure; at the same time, pulmonary circulation resistance increases, causing pulmonary hypertension and pulmonary heart disease. Nasal polyps and chronic sinusitis are also common complications.

The viscous secretions blocked the pancreatic exocrine ducts, and the pancreatic ducts expanded and the acinus expanded to form cysts in the early stage, followed by extensive fibrosis with cell infiltration and atrophy, which caused diabetes. The outer pancreatic duct is blocked, and the secretion of pancreatic enzymes including trypsin, lipase, and amylase is insufficient or lacking, leading to digestion, especially fat malabsorption.

The small bile ducts in the liver are blocked by mucus, causing multilobular cirrhosis, portal hypertension, and liver damage, and may be accompanied by hypersplenism. Biliary obstruction can cause jaundice. Bile deficiency has adverse effects on fat digestion, absorption of fat-soluble vitamins, digestion of pancreatic and intestinal fluids, and intestinal motility. Mucus can exfoliate the intestinal epithelium and damage the structure. Meconium obstruction at the end of the ileum in newborns is a common early manifestation. The content of sodium chloride in sweat glands was significantly increased. Fibrosis of the vas deferens obstructs fertility. Female fertility decline.

Why are most children susceptible to pulmonary cystic fibrosis, a chronic, often deadly, lung infection that healthy adults rarely get? Recently, researchers have discovered that immune cells in patients with pulmonary cystic fibrosis respond differently to Pseudomonas aeruginosa, a bacteria that can cause a malignant inflammatory response.

About 30,000 people in the United States suffer from pulmonary cystic fibrosis. Although much progress has been made in research, many people die in adulthood-almost all of them due to chronic lung infections caused by Pseudomonas aeruginosa. University of Washington microbiologist SamMiller and colleagues have found in previous studies that in the respiratory tract of patients with pulmonary cystic fibrosis, the surface of the bacteria's lipopolysaccharide (LPS) is altered by adding an additional fatty acid . Miller wondered if this structural change helped explain why the bacteria became so deadly.

A few years ago, doctors at Seattle Children's Hospital started collecting Pseudomonas aeruginosa from the respiratory tract of patients with pulmonary cystic fibrosis. To find out, the research team studied Pseudomonas aeruginosa collected by doctors. Miller's team exposed the bacteria's LPS to an immune system receptor called TLR4-MD-2, which is known to recognize LPS and cause an immune response. In the online version of Nature-Immunology on March 25, they reported that to put the TLR4-MD-2 receptor in an overworked state, the sample requires 50 to hundreds of times fewer bacteria than under controlled conditions. . Miller reasoned that the overreaction was no different from that seen in autoimmune diseases, and that the inflammatory response caused by the attack on the immune system suggested that more of the damage was caused by the organism than by the pathogen.

Miller's team then performed the same experiments on mice to compare whether the mice's TLR4-MD-2 responded differently to two distinctly different types of Pseudomonas aeruginosa. The receptors in mice seemed no different to them. Regardless of whether the sample has additional fatty acids, the same amount of bacteria will cause the same response.

"This chronic disease in CF mice does not behave in the same way as humans," said Doug Golenbock, director of the Department of Infectious Diseases and Immunology at the University of Massachusetts Medical School. That means that the widely used mouse model of pulmonary cystic fibrosis "may not be appropriate."

The respiratory system is mainly manifested by repeated bronchial infections and airway obstruction symptoms. Symptoms can appear within a few days after birth. There may be mild cough in the early stage, accompanied by pneumonia, coughing after atelectasis, sticky sputum is not easy to cough, and shortness of breath. If the patient coughs up a lot of purulent sputum or is accompanied by hemoptysis, it may indicate bronchiectasis and lung abscess. On physical examination, clubbing fingers (toes) are common. Lung infections are mostly caused by S. aureus, Pseudomonas aeruginosa, or other Gram-negative bacteria. After extensive fibrosis and emphysema occur in the lungs, there are wheezing, shortness of breath after activity, and often accompanied by spontaneous pneumothorax or mediastinal emphysema. When symptoms of hypoxia and carbon dioxide retention occur, shortness of breath worsens, cyanosis, and finally causes respiratory failure and pulmonary heart disease.

About 10% of newborns have intestinal obstruction and rectal prolapse due to increased mucus secretion and viscosity, and protein digestion due to lack of pancreatic enzymes. Insufficient secretion of the pancreas results in dyspepsia such as abdominal distension, abdominal bulge, discharge of a large amount of foamy stench, and even fatty diarrhea and azotorrhea. Vitamin deficiency, especially vitamin A deficiency, can cause dry eye disease. Although the sick child has a strong appetite and an adequate diet, he still suffers from malnutrition and stunted growth. Biliary obstruction can occur with jaundice, and concurrent liver cirrhosis can occur with portal hypertension and hypersplenism. If a baby sweats too much, he loses a lot of electrolytes and water, which can easily lead to collapse.

Different stages of disease can be seen on the X-ray as a ring-shaped, small piece of fuzzy inflammation that deepens or scatters the bronchial texture of the two lungs. It can also show signs of limited atrophy (atelectasis), bronchiectasis, lung abscess, and pulmonary heart disease.

Increased sodium chloride content in sweat is characteristic of this disease. Normal children's sweat contains 30-40 mmol / L of chlorine and 60 mmol / L of sodium. The content of chloride in the sweat of sick children can be as high as 105-125 mmol / L, and the sodium content is 120 mmol / L. If the content of chloride in sweat is higher than 60mmol / L (more than 70mmol / L in adults) and sodium is higher than 80mmol / L, and adrenal insufficiency can be ruled out, it has important diagnostic significance. 0.2% pilocarpine nitrate electrophoretic penetration method can be used to stimulate skin sweating to determine electrolytes. However, the content of sodium chloride in the sweat of normal adults can exceed the above range, and it is not suitable to perform a sweat test. Duodenal fluid can be taken for examination. If the viscosity is increased, and various trypsin, especially trypsin, is reduced or lacking, that is Diagnose based on. Others, such as rectal mucosal biopsy, see that the glandular duct is full of mucus and expands to form a mucous layer; jejunal mucosal biopsy shows that intestinal mucosal villi are disappeared; 5-hydroxyindoleaceticacid in urine is increased, etc., are also useful for diagnosis.

Cystic pulmonary fibrosis often occurs with cystic bronchiectasis, so it needs to be identified from some diseases that cause cystic bronchiectasis. Cystic bronchiectasis is a complication of recurrent or chronic infection. Health search can be similar to multiple cavities, and multiple Bronchiectasis is accompanied by the appearance of a cystic cavity.

1. Gamma globulin deficiency The patient is prone to recurrent bacterial infections, secondary airway obstruction and cystic bronchiectasis, and sometimes difficult to distinguish from cystic pulmonary fibrosis, but the patient's blood gamma globulin is significantly reduced or lacking. And no high concentration of NaCl in sweat can be identified.

2. Recurrent bacterial pneumonia can cause bronchiectasis during repeated attacks. In the early stage, such bronchiectasis can be cylindrical and reversible. However, after multiple episodes of pneumonia, it can develop into varicose veins or cystic bronchiectasis due to bronchial damage. It is located in the lower lobe. Its chest radiograph is normal at the early stage of infection. Bronchograms can show bronchiectasis at the time when the linear shadows are gathered at the base of the lungs. When the bronchiectasis progresses further, it can be a small cystic bronchiectasis. CT (HRCT) can replace bronchography for diagnosis.

3. Allergic bronchopulmonary aspergillosis may be accompanied by bronchocystic dilation when asthma occurs. Generally, the age of onset of this disease is late and there is no family genetic history. Fibrobronchoscopy can find aspergillus glucocorticoids can be cured.

4. Tuberculous bronchiectasis Tuberculosis is another cause of cystic bronchiectasis. After long-term tuberculosis infection, cavities can occur in the apex and the entire lung. In addition to necrotic cavities in these transparent areas, bronchus must be considered. Dilation, especially cystic bronchiectasis, but bronchiectasis caused by tuberculosis usually has symptoms of poisoning, such as low fever and night sweats. Mycobacterium tuberculosis can be found in sputum. The condition will gradually improve through anti-tuberculosis treatment, so it is not difficult to diagnose health search clinically. of.

Repeated chronic respiratory infections and respiratory failure are the leading causes of death in sick children. Controlling respiratory infections should be directed against sputum and drug susceptibility, and combined antimicrobial treatment is essential. Depending on the condition can be used for a longer period or intermittently. Inhalation with vapor or mucus dissolving agent can liquefy sputum, and the use of antibiotics and bronchodilators for ultrasonic nebulization is more effective. Encourage adults to perform postural drainage to facilitate expectoration.

In addition to vaccinations against measles and pertussis for infants and young children, multivalent influenza vaccination should be given in winter, and chronic sinusitis should be cured as early as possible to prevent lower respiratory tract infections.

Diet therapy is conducive to the absorption of food and promote growth and development. High-calorie, high-protein and low-fat diets should be given, and various vitamins, especially vitamin A, should be supplemented. Pancreatic enzymes, such as pancreatin enteric-coated tablets, are administered orally at 1 to 3 g / d to enhance digestive ability.

Infants with meconium and bowel obstruction can be treated surgically. Too much sweating in hot weather, salt and sufficient water must be added in time to prevent collapse.

Although there is no reliable method to identify heterozygotes with recessive genes, due to the progress of genetic research, it is expected that heterozygous patients will be found in the future and effective measures can be taken for the prevention of this disease.

Other treatments for lung disease

1. Physical therapy: plays an important role in the treatment of CF. Effectively removes sputum, reduces airflow obstruction, and improves ventilation. Patients can perform their own rehabilitation daily. Physiotherapy measures include: active breathing control (tidal volume breathing, deep inhalation and passive exhalation, active exhalation to loosen secretions, and cough / or wheezing), postural drainage, tremor valve, positive pressure exhalation mask Wait. Aggravated periods often require intensive physical therapy by family members and physical therapists.

2. Bronchodilators: Most patients with CF have increased airway responsiveness. You can try using bronchodilators. Some patients respond well to long-acting beta receptor stimulants, while others respond well to oral theophylline.

Fibrosis in most lesions 3. Recombinant DNase (chain enzyme alpha): an atomized mucus lysing agent that can cut off the DNA in dead neutrophils, reduce the viscosity of sputum, and promote clearance. Recommended for patients with an FVC> 40% of the predicted value to improve lung function. 2500U atomization, once a day. Effective in 30% to 40% of patients.

4. Glucocorticoids: Short-term oral administration seems to improve lung function, but the side effects are obvious. Available for ABPA.

5. Nutrition: Most patients need to take in high calories. Fat-soluble vitamins and trypsin should be added.

6. Respiratory support: Respiratory failure and pulmonary heart disease will occur in the late stage of the disease, and home oxygen therapy is needed. In the presence of chronic respiratory failure, the use of non-invasive ventilation at night is a necessary transition for lung transplantation. Infection-related acute exacerbations require respiratory support and are accompanied by significant reversible factors. Noninvasive ventilation may be used initially, but patients may require endotracheal intubation and mechanical ventilation.

7. Immunization: Influenza vaccination every year. Get a pneumococcal vaccine.

8. Lung transplantation: suitable for end-stage CF. Indications include severe respiratory failure still present with the best treatment (FEV of 1.050mmHg suggesting a 2-year survival rate of <50%). Feasible heart or lung transplantation or double lung transplantation. The main problems early after transplantation are infection and acute rejection. 40% of patients gradually progress to occlusive bronchitis at a later stage. The one-year survival rate after transplantation can reach 70% to 80%. Many patients survive more than 10 years.

9. Gene therapy: It is expected to delay the deterioration of lung function in the future.