If early diagnosis and reasonable comprehensive treatment can be made for pulmonary cystic fibrosis, most patients may live to be in their twenties or longer. Otherwise, many sick children died of repeated respiratory infections before 10 years old, which eventually led to serious lung function damage, right heart overload, cor pulmonale and cardiac insufficiency. Treatment includes the use of antibiotics, pancreatin supplementation, physical therapy, high-calorie diet and multivitamin supplementation. If there are sticky secretions in the respiratory tract, drainage and atomized inhalation can be used. Lipopolysaccharide antagonists and tyrosine kinase inhibitors can reduce mucus production.
2 disease name pulmonary cystic fibrosis
3 English name cystic pulmonary fibrosis
4 alias of pulmonary cystic fibrosis; ; Pulmonary cystic fibrosis; Pulmonary cystic fibrosis; Pulmonary fibrobullous disease
5 respiratory classification > rare respiratory diseases
6 ICD number J98.8
Epidemiology Pulmonary cystic fibrosis is a chromosomal recessive disease, which is more common in Caucasians. According to statistics, the incidence rate in the United States is 1/3300, that of African and American descendants is115000, that of Latin American descendants is 1/9500, and that of Asian descendants is 1/3200. So far, there is no case report in China.
The etiological study of pulmonary cystic fibrosis shows that the occurrence of pulmonary cystic fibrosis is related to the mutation of transmembrane regulatory gene (CFTR), which directly leads to Pseudomonas aeruginosa infection (Figure 1). The direct consequence of Pseudomonas aeruginosa infection is airway mucus obstruction and progressive lung tissue necrosis.
Pathogenesis Cystic Pulmonary Fibrosis (CF) is an autosomal recessive congenital exocrine gland disease, which is the most easily involved organ in respiratory tract and gastrointestinal tract. At present, the research on the pathogenesis of CF is at the molecular level. The results showed that the patients with specificity of 15% had adequate pancreatic function, which belonged to functional adequacy type. Other patients with pancreatic insufficiency belong to the type of insufficiency. Scientists in the United States and Canada believe that the gene of CF is the 1 th gene (locus gene) cloned only by binding analysis. The study also showed that CF gene was located on chromosome 7, next to CF gene, with about 1 region 1.5 million base pairs. Due to the combination of "chromosome jumping" and "chromosome moving" techniques, the DNA of 1 500kb was cloned, of which about 256kb was CF gene, and part of this gene was used as a probe for the cDNA library of 1 mRNA from sweat duct elements, which was confirmed. These cells showed the loss of salt transport function in CF patients, and positive clones were found. The cDNA was sequenced. The full length of the cDNA is about 6000bp, including 65,438+0 open reading regions, which is consistent with the encoded 65,438+0 proteins. Further research compared the cDNA sequences of normal people and patients, and revealed 65,438+0 interesting mutations and 3 base deficiency, which led to the gene protein product 508.
10 pathological changes due to abnormal exocrine gland function, increased and sticky respiratory secretions, impaired ciliary clearance function, leading to bronchial mucus blockage and subsequent infection. Under normal circumstances, patients were born without respiratory diseases. At the early stage of the disease, bronchial glands were enlarged and goblet cells degenerated. Later, the bronchial mucus glands secreted thick secretions, which inhibited the activity of mucociliary epithelium, and the mucus drainage was not smooth, leading to bronchial obstruction, secondary suppurative bronchitis and pulmonary inflammation. If lung infection occurs repeatedly, it can further cause atelectasis, lung abscess and bronchiectasis, especially cystic bronchiectasis, extensive pulmonary fibrosis and obstructive emphysema. Pulmonary hypertension, cor pulmonale and heart failure occurred in the later stage. At first, the disease mostly occurred in the upper lobe bronchus of the right lung, and often invaded the segmental bronchus and bronchioles. Bronchiectasis of these two parts is the characteristic of the disease. Microscopically, cystic bronchiectasis, excessive expansion and secretion of glandular ducts, inflammatory swelling of bronchial wall and infiltration of plasma cells and lymphocytes can be seen. In the early stage of pancreatic diseases, glandular ducts dilate and epithelial cells flatten, which will cause pancreatic degeneration and fibrosis in the later stage, and eventually induce diabetes. Liver lesions are similar to pancreatic lesions. Bile duct dilatation and hyperplasia can be seen in the early stage, and a few of them develop into portal cirrhosis. Sweat gland structure and sweat viscosity are normal, but the increased concentration of Na, K and Cl in sweat is also the characteristic of this disease. About 10% of children have meconium ileus due to abnormal endocrine glands outside the gastrointestinal tract.
1 1 Clinical manifestations of pulmonary cystic fibrosis The typical clinical manifestations are repeated respiratory and pulmonary infections and pancreatic insufficiency, such as a large number of fatty stools. There are different types in clinic, which reflect the specificity of cystic pulmonary fibrosis at the molecular level. 65,438+0.5% children have enough residual pancreatic function and are classified as pancreatic function-sufficiency type, and their situation is better than that of residual pancreatic function-insufficiency type. If other family members are involved, it is necessary to obtain the patient's family history. Sometimes the baby will have pancreatic insufficiency when he is born, because sticky meconium will lead to meconium intestinal obstruction.
The initial symptom of respiratory tract is cough, mainly dry cough, and the phlegm is sticky and difficult to cough out, followed by paroxysmal cough and increased phlegm. Due to respiratory tract infection, many children began to get sick because of fever, and then they were hospitalized for further examination, asking about their medical history and doing relevant tests before they were diagnosed. Because children's respiratory tract infection is serious, sputum is not easy to cough out and will not cough, so chest tightness, breath holding and dyspnea can occur, which can last for weeks or even months. Although many children are seriously ill, they were not diagnosed until 10 years old. Cystic pulmonary fibrosis can also involve the reproductive system, so most men and women are infertile.
If hemoptysis is repeated during bronchiectasis, symptoms such as cyanosis and clubbing may appear in the later stage, and serious complications such as cor pulmonale and heart failure often occur, and they often die before 10 years old. On the contrary, if we can get early diagnosis and reasonable comprehensive treatment, most patients can live to be in their twenties or even longer.
12 Complications of pulmonary cystic fibrosis, such as repeated hemoptysis with bronchiectasis, cyanosis, clubbed fingers, etc., are often complicated with serious complications such as cor pulmonale and heart failure.
13 laboratory examination 1. Sweat test was positive.
2. Pancreatic * * * test showed that pancreatin decreased significantly or was close to normal, but bicarbonate decreased significantly.
In addition to clinical symptoms, X-ray, CT and MRI can also provide certain diagnostic basis for auxiliary examination of 14 pulmonary cystic fibrosis.
14. 1 X-ray examination (1) Lung texture changes: At the early stage of the lesion, bronchiectasis showed lung texture enhancement.
(2) Lobular pneumonia-like changes: bronchial obstruction and infection below the lung segment, forming small patches and fuzzy shadows.
(3) Changes of lung field: There is annular shadow around hilum, which is an important X-ray sign of the initial bronchial sac. This annular shadow is an abnormal bronchiectasis, not a real cavity, especially in the upper lobe, and there may be signs of air accumulation in the lower lobe, including the loss of peripheral blood vessels and the low diaphragm. At the same time, localized obstructive atelectasis, emphysema, lung abscess and cor pulmonale may occur.
(4) Bronchography: It shows mild to moderate columnar bronchiectasis, which often occurs in the upper lobes of both lungs.
14.2 Chest CT examination (1) Bronchial wall thickening and bronchiectasis: it can be widely distributed in all lobes of both lungs, especially in the upper lobes of both lungs. Bronchiectasis is mainly mild to moderate columnar bronchiectasis. Bronchial wall thickening can occur in both dilated bronchi and non-dilated bronchi, and the inside and outside of the bronchial wall are usually slightly smooth.
(2) Diffuse emphysema in both lungs: the density of lung field is low and uneven, and the degree of lesion is different in different cases, especially in infants or children.
(3) Bronchial mucus plug: Because mucus secretion stays in the trachea, it has different shapes according to the direction of the bronchi where mucus stays, and most of them are round, oval, tubular or V-shaped or Y-shaped high-density shadows with uniform density and smooth and sharp edges. Generally, the CT value is 15 65438+40~80HU, but the CT retention time of mucus suppository is longer.
(4) Thin-walled air sac: Due to bronchiectasis, emphysema, bullae and interstitial air cyst, air sacs with different sizes are formed, mainly distributed in the upper parts of both lungs.
(5) patchy shadows: infectious bronchopneumonia and subsegmental atelectasis, patchy high-density shadows with different sizes of 1 ~ 3 cm, and common or more lesions in the upper lung field.
14.3 chest MRI showed that cystic fibrosis of respiratory system was secondary infection caused by bronchial obstruction and secretion. MRI can well show bronchial mucus embolus and pulmonary infectious diseases. Mucous embolus shows a shorter and longer T 1 abnormal signal, with uniform signal, smooth and sharp edge and various shapes, and its tip points to the hilum of the lung. The secondary infection is mainly lobular pneumonia-like changes.
15 diagnosis of pulmonary cystic fibrosis A useful laboratory test is quantitative pilocarpine electroosmotic therapy sweat test. Because there is high concentration of NaCl in sweat, under normal circumstances, Cl is less than 60 mmol/L, and if the determination result is C 1 > 70 mmol/L, it is positive and has diagnostic value. In addition, the function of exocrine glands such as pancreatic duct is abnormal, the amount of stool is large, and the fat stool is mostly. Children are often prone to respiratory tract infection, and the mucus secretion of respiratory tract is increased, which is easy to cause airway obstruction. Combined with family history, x-ray, CT, MRI, etc. , generally can be diagnosed.
The differential diagnosis of 16 cystic pulmonary fibrosis often leads to 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 manifestations can be similar to multiple cavities. It is not a real cavity, but a manifestation of multiple bronchiectasis with cystic cavity.
16. 1 gamma globulin deficiency This patient is prone to recurrent bacterial infection, secondary airway obstruction and cystic bronchiectasis, which is sometimes difficult to distinguish from cystic pulmonary fibrosis, but the patient's blood gamma globulin is obviously reduced or lacking, and there is no high concentration of NaCl in sweat, so it can be distinguished.
16.2 Recurrent bacterial pneumonia can cause bronchiectasis. In the early stage, this bronchiectasis can be cylindrical and reversible. However, after repeated attacks of pneumonia, bronchial damage can develop into varicose veins or cystic bronchiectasis, which is characterized by being located in the lower lobe of the lung. At the early stage of infection, the chest radiograph was normal, and linear shadows gathered at the bottom of the lung. Bronchography can show bronchiectasis at this time. When bronchiectasis develops further, it can be small cystic bronchiectasis, and high-resolution CT(HRCT) can replace bronchography to obtain diagnosis.
16.3 Asthma caused by allergic bronchopulmonary aspergillosis may be accompanied by bronchocystic dilatation, but generally the onset age of the disease is late and there is no family genetic history. Fiberoptic bronchoscopy can find Aspergillus hyphae, and glucocorticoid can cure it.
4. Tuberculosis bronchiectasis? Tuberculosis is another cause of cystic bronchiectasis. After long-term tuberculosis infection, cavities can appear in the apex of the lung and the whole lung. Besides necrotic cavity, bronchiectasis, especially cystic bronchiectasis, must be considered in these transparent areas. However, bronchiectasis caused by tuberculosis generally has poisoning symptoms, such as low fever and night sweats. Tuberculosis can be found in sputum, and the condition will gradually improve through anti-tuberculosis treatment, so the clinical diagnosis is not difficult.
17 treatment of pulmonary cystic fibrosis If the history of cystic pulmonary fibrosis can be inquired in detail, early diagnosis and reasonable comprehensive treatment can be obtained, and the prognosis is optimistic. Most patients can live to be in their twenties or even longer. Otherwise, many sick children died of repeated respiratory infections before 10 years old, which eventually led to serious lung function damage, right heart overload, cor pulmonale and cardiac insufficiency. In the treatment, due to children's repeated respiratory infections, antibiotics must be used to control respiratory and lung inflammation and prevent the further development of the disease. Other treatments include pancreatin supplementation, physical therapy, high-calorie diet and multivitamins, especially vitamins C and E. 1 group research shows that there is an imbalance between oxides and non-oxides in CF patients, and the content of vitamin C is obviously lost. Vitamin C supplementation can adjust the balance, but the clinical effect of high-dose vitamin C in the treatment of CF patients needs further large-scale experimental study. For the viscous secretions of respiratory tract, drainage, atomizing inhalation and other methods can be used to promote the discharge of viscous secretions, and sometimes other drugs such as mucosolvan and sparse mucin can be considered. With the improvement of the understanding of the pathogenesis of CF, people use lipopolysaccharide antagonists and tyrosine kinase inhibitors to reduce mucus production, resulting in a significant decline in morbidity and mortality. In 1 group, hydrocortisone can improve the pulmonary function of children with cystic pulmonary fibrosis after discharge. At present, it is proved that atomized recombinant human DNA enzyme preparation is useful to digest respiratory tract microorganisms. The development of specific drugs acting on or improving the function of mutant CFTR protein is being actively explored. Another study proved that introducing cDNA encoding CFTR protein into cultured cells of CF patients can obviously correct the defect of Cl transport. It is expected that the treatment prospect of CF in the future will be bright, and this disease will be treated satisfactorily.
18 prognosis if early diagnosis and reasonable comprehensive treatment can be given, most patients may live to their twenties or even longer.
19 related drugs: pancreatin, oxygen, vitamin c, hydrocortisone and cortisone.
Related examination of alanine, plasma cells and vitamin C.
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