Introduction:
Cystic fibrosis(cystic pulmonary fibrosis, CPF or CF) is a congenital disease with a family autosomal recessive hereditary. The most common among white American whites, about one in every 2,500 people is involved, one in 25 is a carrier, and the other is rare. As a lesion of the exocrine gland, the gastrointestinal tract and respiratory tract are often involved. The diagnosis is based on an increase in the NaCl content in the sweat, reflecting the abnormal function of the exocrine glands. Due to the abnormal transport of Na and Cl-, the ducts of the pancreatic duct and some other exocrine glands are filled with mucus, leading to obstruction. Due to the increased mucus in the bronchi, the bronchial obstruction can make certain bacteria (such as Staphylococcus aureus, Pseudomonas aeruginosa, etc.) easy to grow and reproduce, further causing repeated infection of the lungs and bronchus, which in turn causes cystic lung fibers. Chemical, severely impaired lung function, with lung disease and lung function damage, further leading to right heart hypertrophy, heart failure. Due to the lack of trypsin, it can also cause clinical manifestations such as dyspepsia and developmental disorders. If the disease is diagnosed early and a reasonable combination of treatment, most patients may survive to the age of 20 or longer. Research on various detailed treatment methods is currently underway.
Cause:
(1) Causes of the disease
Studies have suggested that the occurrence of CF is associated with a transmembrane regulatory factor gene (CFTR) mutation that directly leads to P. aeruginosa infection (Figure 1). The direct consequence of P. aeruginosa infection is airway mucus obstruction and progressive lung tissue necrosis.
(two) pathogenesis
Cystic pulmonary fibrosis (CF) is an autosomal recessive congenital exocrine disease that is the most susceptible organ of the respiratory and gastrointestinal tract. The current research on the pathogenesis of CF has been at the molecular level. The results of the study showed that patients with a specificity of 15% had sufficient pancreatic function and were functionally adequate. Other patients have insufficient pancreatic function and are under-functioning. Scientists in the United States and Canada believe that the gene of CF is the first gene (site gene) that was cloned only based on the binding analysis to determine its site. The study also showed that the CF gene is located on chromosome 7, next to the CF gene, around 1 Approximately 1.5 million base pairs of regions, due to the combination of "chromosome beating" and "chromosome shifting" technology, cloned a 500 kb DNA, of which about 256 kb is the CF gene, part of which is used as a sweat gland. The probe of the cDNA library of the mRNA of the ductal cell was thus confirmed. These cells showed loss of salt transport function in CF patients, found positive clones, and sequenced the cDNA. The cDNA was about 6000 bp in length and contained an open reading region consistent with the encoded protein. Further studies were normal. Comparison of human and patient cDNA sequences reveals an interesting mutation, the lack of 3 bases, resulting in the lack of a protein protein product, 508 and a phenylalanine base (CF508). This mutation is only in CF. It can be seen in patients that normal people have never seen it.
Pathological changes: due to the abnormal function of the exocrine glands, the secretions of the respiratory tract are increased and thick, and the damage of the cilia removal function causes the bronchial mucus to clog, resulting in secondary infection. Under normal circumstances, the patient has no respiratory lesions at birth and found bronchial gland hypertrophy in the early stage of the disease, goblet cell degeneration, and then the bronchial mucous glands secrete a thick secretion, which inhibits mucociliary epithelial activity and poor mucus drainage. Bronchial occlusion, secondary septic bronchitis, lung inflammation. If the lung infection occurs repeatedly, it can further cause atelectasis, lung abscess, bronchiectasis, especially cystic bronchiectasis, extensive fibrosis of the lungs and obstructive emphysema. Pulmonary hypertension, pulmonary heart disease, heart failure, etc. occur later. The disease begins to occur in the right upper lobe bronchus, often invading the sub-bronchus and bronchioles. The bronchiectasis of these two parts is the characteristic of this disease. Microscopically, cystic bronchiectasis, glandular duct dilatation and hypersecretion, inflammatory swelling of the bronchial wall, and infiltration of plasma cells and lymphocytes were observed. In the early stage of pancreatic lesions, the ducts are dilated, and the epithelial cells are flattened, which later causes pancreatic degeneration and fibrosis, and finally induces diabetes. Liver lesions are similar to pancreas. Early manifestations of bile duct dilatation and hyperplasia, a few develop portal cirrhosis, sweat gland structure and sweat viscosity are normal, but the concentration of Na, K, and Cl- in sweat is also characteristic of this disease. About 10% of children may have meconium-induced intestinal obstruction due to abnormalities in the gastrointestinal exocrine glands.
symptom:
The typical clinical manifestation is that the child has repeated respiratory and pulmonary infections, and there is a manifestation of pancreatic exocrine glands, such as a large amount of fat. There are different types of clinical, which reflect the specificity of cystic pulmonary fibrosis at the molecular level. Fifteen percent of children have adequate pancreatic function and are classified as having adequate pancreatic function. These conditions are better than those of residual pancreatic function. If other family members are involved, the family history of the patient must be obtained. Sometimes the baby is born with a manifestation of pancreatic insufficiency, which can lead to meconium ileus due to sticky meconium.
The initial symptoms of the respiratory tract are cough, mainly dry cough. The sputum is sticky and difficult to cough up. It is followed by paroxysmal cough and increased sputum. Due to respiratory infections, many children are diagnosed with fever, and then hospitalized for further examination, medical history and related examinations are confirmed. Because the children's respiratory tract infection is serious, it is not easy to cough up and will not cough, so there may be hypoxia such as chest tightness, belching and dyspnea. These symptoms can last for weeks or even months, and many children have serious diseases. But it was not until the age of 10 that it was diagnosed. Cystic pulmonary fibrosis can also affect the reproductive system, so most men and women who are sick are infertile.
If there is repeated hemoptysis in the case of bronchodilation, there may be cyanosis and clubbing in the later stage, often with serious complications such as pulmonary heart disease and heart failure, often dying before the age of 10. Conversely, if early diagnosis and reasonable comprehensive treatment are available, most patients can live to be more than 20 years old or even longer.
A useful laboratory test for cystic pulmonary fibrosis is a quantitative test of the pilocarpine electroosmotic therapy. Because there is a high concentration of NaCl in the sweat, in general, Cl-<60mmol/L, if the measurement result C1->70mmol/L is positive, has diagnostic value. In combination with children with pancreatic duct and other exocrine gland dysfunction, the amount of stool is more, and more fat, children are often prone to respiratory infections, increased mucus secretions in the respiratory tract, easily lead to airway obstruction, combined with family history, X-ray, CT, MRI, etc. are generally diagnosable.
diagnosis:
Cystic bronchofibrosis often occurs with cystic bronchiectasis, so it needs to be differentiated from some diseases that cause cystic bronchiectasis. Cystic bronchiectasis is a complication of recurrent or chronic infection, and its performance can be similar to multiple cavities. It is not true. The cavity is a manifestation of multiple bronchiectasis with a cystic cavity.
1. gamma globulin deficiency This patient is prone to recurrent bacterial infection, secondary airway obstruction and cystic bronchiectasis, sometimes difficult to identify with cystic pulmonary fibrosis, but the patient's blood gamma globulin is significantly reduced or lacking, And there is no high concentration of NaCl in the sweat, so it can be identified.
2. Recurrent bacterial pneumonia can cause bronchiectasis when recurrent. Early bronchiectasis can be cylindrical and reversible, but after multiple pneumonia attacks, bronchial lesions can develop into varicose veins or cystic Bronchiectasis, which is characteristic of the lower lobe, is normal in the early chest of infection and is concentrated in the linear shadows at the base of the lungs, when bronchography can show bronchiectasis. When bronchodilation develops further, it can be a small cystic bronchiectasis, and high-resolution CT (HRCT) can be used instead of bronchography to obtain a diagnosis.
3. Allergic bronchopulmonary aspergillosis can be accompanied by bronchial cystic dilatation, but generally the age of onset of this disease is late, no family history, fiber bronchoscopy can find the mycelium, glucocorticoids can be cured.
4. Tuberculous bronchiectasis tuberculosis is another cause of cystic bronchiectasis. After long-term tuberculosis infection, cavities can occur in the lung tip and the whole lung. In addition to necrotic cavities, these transparent areas must also consider bronchial tubes. Expansion, especially cystic bronchiectasis, but tuberculosis caused by tuberculosis usually has symptoms of poisoning, such as low fever, night sweats, etc., tuberculosis can be found in the sputum, the disease will gradually improve through anti-tuberculosis treatment, so the clinical diagnosis is not difficult of.
complication:
If there is repeated hemoptysis in the case of bronchodilation, there may be cyanosis and clubbing in the later stage, often with serious complications such as pulmonary heart disease and heart failure.
treatment:
(a) treatment
If cystic pulmonary fibrosis can be diagnosed in detail, with early diagnosis and reasonable comprehensive treatment, the prognosis is optimistic, and most patients can survive to 20 years or even longer. Otherwise, many sick children often have severe lung function damage due to repeated respiratory infections before the age of 10, and the right heart load is too large, pulmonary heart disease, heart failure and death. Because of the repeated respiratory infections in children, antibiotic treatment must be used to control inflammation of the respiratory tract and lungs to prevent further development of the disease. Other treatments include pancreatic enzyme supplementation, physical therapy, and high-calorie diets, supplemented with multivitamins, especially vitamins C and E. A group of studies showed that there was an imbalance of oxides and non-oxides in CF patients, vitamin C content was significantly lost, and vitamin C supplementation could regulate the balance, but the clinical effect of high-dose vitamin C in the treatment of CF patients still needs further large-scale experimental research. For the secretion of sticky secretions in the respiratory tract, body position drainage and aerosol inhalation can be used to promote the secretion of sticky secretions. Other drugs such as mucosolvan and thinned mucin may also be considered. With the increased understanding of the pathogenesis of CF, lipopolysaccharide antagonists and tyrosine kinase inhibitors have been used to reduce mucus production, resulting in a significant decrease in morbidity and mortality. 1 group of researchHydrocortisoneTreatment of cystic pulmonary fibrosis Infants with lower respiratory tract disease can improve lung function after discharge from the hospital. It has proven useful to use nebulized recombinant human DNase preparations to digest microorganisms in the respiratory tract. The development of specific drugs to act on or improve the function of mutant CFTR proteins is under active exploration. Another study has shown that the cultured cells from CF patients can be encoded, and the cDNA of CFTR protein can significantly correct the defects of Cl-transport. It is expected that the therapeutic prospects of CF will be good in the future, and satisfactory treatment for this disease will be obtained.
(two) prognosis
If the disease is diagnosed early and a reasonable combination of treatment, most patients may survive to the age of 20 or longer.
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