Cystic fibrosis

Introduction to cystic fibrosis A hereditary exocrine gland disease, mainly affecting the gastrointestinal tract and respiratory system, usually characterized by chronic obstructive pulmonary disease, insufficient pancreatic exocrine function, and abnormally elevated sweat electrolytes. There are many possible treatments for the clinical manifestations and complications of cystic fibrosis. The main goal of treatment is to prevent infection, reduce the amount and viscosity of the secretions in the lungs, improve breathing, and maintain adequate nutrition. basic knowledge The proportion of sickness: 0.01% Susceptible people: no special people. Mode of infection: non-infectious Complications: vasculitis, arthritis

Cystic fibrosis

Genetic factors (35%):

Cystic fibrosis (CF) is the most common hereditary disease with shortened life span in whites. The incidence rate in the United States is about 1/3300 white infants, 1/15300 black infants, 1/32000 Asian Americans; 30% The patient is an adult.

CF is autosomal recessive, with 3% of genes in whites. The related gene is located on the 250,000 base pair of chromosome 7q (long arm) genomic DNA, which encodes a membrane-associated protein called the cystic fibrosis transmembrane regulatory substrate (CFTR). The most common gene mutation, F508, results in the deletion of a phenylalanine residue at the 508 position of the CFTR protein and occurs in about 70% of the alleles; another 30% has more than 600 rare mutations. The function of CFTR is not clear, but it is clearly a part of the chloride channel regulated by cAMP, and regulates the transport of chlorine and sodium across the cell membrane. The heterozygote has no abnormal clinical symptoms, but there is a mild abnormality in epithelial membrane transport.

Electrolyte transmembrane transport barrier (5%):

Cystic fibrosis is an autosomal recessive disorder caused by mutation of the CF gene on chromosome 7. The patient is homozygous and his parents are heterozygous. Half of the patient's siblings can carry recessive genes, and 1/4 can get sick. Heterozygous genes with recessive genes generally account for 2% to 5% of newborns, and one in 2000 to 2500 newborns. The pathogenesis of cystic fibrosis exocrine gland dysfunction is unclear. Studies have shown that the patient's epithelial cells have defective chloride channel regulation, and the transmembrane transport of water and electrolyte in the mucosal epithelium of the respiratory tract is impeded. The content of acid glycoprotein in the mucus gland secretion increases, changing the characteristics of mucus rheology, possibly secretory. The reason why the material becomes sticky.

Cystic fibrosis prevention

The course of the disease varies greatly, depending on the extent of lung involvement. However, deterioration is unavoidable, leading to failure and eventual death, usually due to both respiratory failure and pulmonary heart disease. It is worthy of recognition to improve the immune function of the immune function by raising the lungs. However, people should first understand the efficacy of food when eating, such as eating white radish, more suitable for coughing, coughing; eating lily, porridge, boiled water drink better; eating mung beans, suitable for internal fire People; and you can clear the heat, eat raw, boil water. At the same time, because people's individual quality is very different, so take the disease according to their own situation, and pay attention to eating too spicy, salty, greasy food.

Cystic fibrosis complications Complications vasculitis arthritis

May be complicated by vasculitis and arthritis.

Cystic fibrosis symptoms common symptoms liver dysfunction jaundice liver failure portal hypertension gallstone intestinal atresia hepatomegaly

1. Respiratory performance

The respiratory system is mainly characterized by repeated bronchial infections and airway obstruction. Symptoms can occur within a few days after birth. In the early stage, there may be mild cough, accompanied by pneumonia, atelectasis, and then coughing is worse. Sticky is not easy to cough up and shortness of breath. If the patient coughs up a lot of purulent sputum or hemoptysis, it suggests the possibility of bronchiectasis and lung abscess. Physical examination of common clubbing (toe). The pathogens of lung infection are mostly Staphylococcus aureus, Pseudomonas aeruginosa or other Gram-negative bacilli. After extensive fibrosis and emphysema in the lungs, there is wheezing, shortness of breath after activity, often accompanied by spontaneous pneumothorax or mediastinal emphysema. When hypoxia and carbon dioxide retention symptoms occur, the air is intensified, cyanosis, and finally lead to respiratory failure and pulmonary heart disease.

2. Digestion and malnutrition

Newborns have meconium obstruction due to intestinal mucus secretion and viscosity increase, as well as lack of trypsin and other factors affecting protein digestion. Intestinal obstruction and rectal prolapse can also occur in children. Insufficient secretion of the pancreas causes bloating, abdomen bulging, discharge of a large amount of foamy odorous feces and other symptoms of dyspepsia, and even steatorrhea and nitrogen spillage. Vitamin deficiency, especially vitamin A deficiency, can cause dry eye. Although the patient has a strong appetite and sufficient diet, it is still malnourished and has a slow growth. Biliary tract obstruction can occur jaundice, and when cirrhosis occurs, portal hypertension can occur, and spleen hyperactivity can occur. If the baby sweats too much and loses a lot of electrolytes and water, it is easy to cause collapse.

3. Reproductive system performance

Cystic fibrosis also affects the reproductive system. Because thick secretions often block the tubules (vas deferens) that connect the testes to the prostate, many male cystic fibrosis patients are infertile. The reproductive capacity of women with cystic fibrosis is also reduced compared with normal women.

Cystic fibrosis examination

Chloride in sweat increases, 80% to 85% of pancreas has various exocrine functions, 5% to 10% have partial exocrine insufficiency, and a small part of exocrine function is normal. The main manifestations of pancreatic insufficiency are steatorrhea and feces. Excessive nitrogen.

Fat-soluble vitamins such as vitamin A, D, E, K absorption disorders, vitamin K deficiency can occur in 1 year old, there is bleeding tendency, serum blood serotonin A level is low, liver concentration is normal or high, night blindness and intracranial pressure can occur Increase.

The liver function test is normal, and there may be an increase in direct bilirubin, an increase in serum ALT, AST, and alkaline phosphatase. Some children may develop hypoproteinemia due to malabsorption.

Diagnosis and diagnosis of cystic fibrosis

Because the CF gene mutations are highly variable, it is currently not dependent on genetic diagnosis, and can be diagnosed based on clinical symptoms, combined with laboratory tests to make a diagnosis. Perform intestinal mucosal biopsy if necessary. If you can be vigilant and pay attention to the diagnosis points, it is not difficult to identify with other children with celiac disease or adult chronic bronchitis.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.