Cystic fibrosis of pancreas

Introduction to cystic fibrosis in the pancreas Pancreatic cystic fibrosis, also known as mucouscidosis, is a hereditary pancreatic disease in infants and adolescents. In fact, it is a complex symptom of multiple exocrine glands. The organs involved include the pancreas. Lung, liver, intestines, sweat glands, etc. In 1936, Fanconi first described three cases of this disease and named it cystic fibrosis of the pancreas. basic knowledge The proportion of illness: 0.004% Susceptible people: no specific population Mode of infection: non-infectious Complications: malnutrition chronic obstructive pulmonary disease diabetes acute pancreatitis

Pancreatic cystic fibrosis

(1) Causes of the disease

The cause is not very clear. It is generally considered to be a gene-deficient, autosomal recessive hereditary disease caused by a single gene or multiple gene abnormal mutation. Autosomal recessive inheritance only occurs when the disease-causing gene is homozygous (rr). Onset, in the heterozygous state (Rr), due to the presence of the normal dominant gene R, the role of the causative gene r cannot be expressed, but such an individual can transmit the disease-causing gene r to the offspring without becoming ill. Carriers, offspring with genetic factors, the incidence of cystic fibrosis of the pancreas is as high as 25%, the total probability of men and women is equal, the disease can account for almost 2% to 4% of autopsy.

(two) pathogenesis

Pathogenesis

Cystic fibrosis of the pancreas is mainly caused by pancreatic exocrine dysfunction, electrolyte imbalance, malnutrition, clinical syndrome characterized by multiple organ secretion disorders, mucus accumulation and obstruction, and more organs involved. Complex, difficult to generalize for a simple mechanism, there is a barrier to calcium transport in the body, a large amount of calcium ions accumulate in the cytoplasm and mitochondria, and the cell membrane sodium pump function is out of control, calcium ion absorption decreases, high The concentration of intracytoplasmic calcium ions will affect the transcription of glycoproteins, causing changes in the mucin glycoprotein pattern, thus altering the gel-sol state of the mucus secreted by the exocrine glands, resulting in increased viscosity, secondary multiple organs (pancreas, The system of hepatobiliary, lung, small intestine is excreted and blocked.

In 1944, Farber reported a decrease in pancreatic secretion and a lack of trypsin (amylase, lipase, protease), early digestion and absorption of proteins and fats, and a change in meconium into a thick gelatinous substance, causing the ileum to be grayish white. Meconium block blockage, about 10% to 15% of pancreatic cystic fibrosis in infants can occur meconium intestinal obstruction, the latter will be secondary to intestinal torsion, intestinal necrosis, intestinal perforation, meconium peritonitis.

In the hepatobiliary system due to bile viscosity and abnormal secretion, biliary cirrhosis and gallstones appear, thus secondary to portal hypertension, splenomegaly, hypersplenism, ascites, jaundice, upper gastrointestinal bleeding.

Due to the thick mucus in the bronchus, the composition and physicochemical abnormalities of the mucus, the mucus is not easily discharged, resulting in bronchial obstruction, bronchitis, peribronchial inflammation, obstructive emphysema, bronchiectasis, pulmonary insufficiency, and pulmonary heart disease. A series of respiratory diseases of the cystic fibrosis of the pancreas.

Electrolyte disorders In addition to dyspepsia factors, the patient's sweat glands secrete excessive amounts of chloride and sodium, causing the body to lose more salt, which is one of the important causes of electrolyte imbalance. It is reported that the sweat gland of the pancreatic cystic fibrosis patients The concentration of compound and sodium is 2 to 5 times higher than that of ordinary people, and its concentration is 50-160 mEq/L of chloride (normal average 27 mEq/L); sodium is 80-190 mEq/L (normal average of 52 mEq/L), chloride in sweat gland The mechanism of increased sodium concentration is unclear.

2. Pathological changes

(1) Pancreas: pancreatic fibrosis, hardening, irregular surface, pancreatic acinar and glandular ducts are blocked by amorphous calcium-rich eosinophils, chronic inflammation around the acinus, extensive interstitial Fibrosis gradually replaces the pancreatic lobule, the duct is cystic, the parenchymal cells shrink or disappear, and the islet cells are basically normal, but the degree of pancreatic lesions is not proportional to the condition.

(2) Lung: Due to the trachea, a large amount of sticky mucus in the bronchi is retained, and the cilia of the mucosa is destroyed; the trachea, bronchi, bronchioles are obstructively altered, and there is an inflammatory reaction around; there may be pulmonary bullae and atelectasis. Pathological changes.

(3) Hepatobiliary: small concave or diffuse sclerosis lesions on the surface of the liver, small bile duct mucinous obstruction and localized biliary cirrhosis are characteristic features of cystic fibrosis in the liver, and the liver is seen under the microscope. Normal tissue structure is destroyed, the bile duct is blocked by eosinophils, there is inflammation around it, fibrous tissue and bile duct hyperplasia, hepatic lobule is surrounded by fibrous tissue, forming multilobular biliary cirrhosis and intrahepatic bile duct Stones, thickened "white bile" in the gallbladder wall atrophy, often combined with gallstones.

(4) Intestinal: The small intestine also has a special manifestation of cystic fibrosis in the pancreas. The duodenal gland enlarges, the glandular epithelial cells are flat, and the duodenal intestinal cavity has a thick secretion, small intestinal mucus. Although the number of goblet cells in the gland has not increased, there is still a strong secretion in the intestine. In addition to the morphological changes in the intestine, it has been found that some cells in the intestinal mucosa have reduced cytosolic enzyme activity, phenylalanine The absorption of aminoacetic acid is reduced.

(5) Others: Abnormal mucus secretion can cause blockage of various organs of the epididymis, vas deferens, seminal vesicles, fallopian tubes and other reproductive organs; cervical mucous glands expand, and the cervix is blocked by mucus.

Other non-secretory mucinous glands, such as sweat glands and parotid glands, have no pathological changes, but the concentrations of sodium and chloride in their secretions are significantly increased.

Pancreatic cystic fibrosis prevention

There is no effective preventive measure for this disease. Early detection and early diagnosis are the key to the prevention and treatment of this disease.

Pancreatic cystic fibrosis complications Complications malnutrition chronic obstructive pulmonary disease diabetes acute pancreatitis

It has been reported that normal growth and development can be achieved before the age of 10, but after 10 years of age, growth and development are often affected by malnutrition and chronic obstructive pulmonary disease.

Due to the cystic fibrosis of the pancreas, about 13% of adult patients can cause diabetes; it is also prone to acute pancreatitis.

Pancreatic cystic fibrosis symptoms common symptoms peritonitis pancreatic function deficiency gallstone respiratory failure portal hypertension heart failure hemoptysis

Symptoms begin to appear within one year of age. Due to cystic fibrosis in the pancreas, the secretion of pancreas and the concentration of enzymes in the pancreas are significantly reduced. In some cases, there is a large amount of feces in the neonatal period, and the meconium can be sticky and gelatinous. The putty-like black substance adheres tightly to the intestinal wall, causing meconium-induced intestinal obstruction or peritonitis. Some patients have significant steatorrhea after several months. The appetite of the child is good. Although the diet is adequate, the body weight is still not Increase, slow growth, large amount of feces, no shape, odor is very heavy, 3 to 6 times a day, some children may develop cirrhosis, and secondary hypoproteinemia, edema, anemia, dry eyes and vitamin K Lack of disease.

Children often have respiratory infections, repeated attacks, eventually to form chronic bronchitis, bronchial pneumonia or bronchiectasis, severe cases of pneumothorax or hemoptysis, advanced respiratory failure, pulmonary heart disease and heart failure.

The children's sweat, tears and saliva, sodium and chloride content increased, sweating, water and electrolytes are lost a lot, easy to collapse.

Examination of cystic fibrosis in the pancreas

The level of trypsin in the duodenal drainage fluid is low, especially the lack of trypsin has diagnostic value. There are more fat droplets in the feces, and about 20% to 30% of patients have abnormal glucose tolerance test.

The concentration of chloride and sodium in the patient's sweat is 2 to 5 times higher than that of normal people (normal Na + 10 ~ 80mmol / L; Cl-6 ~ 60mmol / L) has significant diagnostic significance, the diagnosis rate can reach 99%, sweat test (sweat test) is the main diagnostic method for cystic fibrosis of the pancreas, such as the pilocarpine iontophoresis sweat test, in the test area of the baby thigh or pediatric forearm flexion, first wash the wipe with distilled water, 0.2% 2ml of pilocarpine nitrate was dropped on a 5.08cm2 gauze and placed on a positive copper electrode of 4.6cm2 size; 2ml of 0.9% sodium chloride solution was dripped with the same size gauze, placed on the negative copper pole, and the rubber band will be positive. The negative electrode is fixed in the test area and the opposite side of the skin, and the connecting wire is energized to 4 mA in 10-20 s for 5 min, the electrode and gauze are removed, and the skin of the test area is washed and washed with distilled water, and the sodium-free one is used. A 5.08cm2 gauze is weighed and placed in the skin of the test area and covered with a 6.36cm2 tape. Then use a waterproof tape to stick tightly to prevent the sweat from evaporating. After 30~40min, the gauze is weighed again. The difference between the two weights is Collect sweat (about 100 ~ 600mg), wash it out with gauze Solution, then measure the chloride ion levels titration; Flame Photometer sodium ion concentration.

1. Imaging examination of the abdominal X-ray film shows that the upper end of the obstruction is dilated or inflated, and there are scattered small bubbles in the meconium (soap bubble sign), which is a typical meconium intestinal obstruction sign, which is pancreatic cystic One of the important reasons for patients with fibrosis, accompanied by meconium peritonitis, thin strips or patchy calcifications are seen on plain films. Contrast agents are segments or clumps after ingestion of contrast agents in patients with incomplete intestinal obstruction. Distribution, intestinal tube thickness is uneven, small intestinal mucosa is rough. Chest X-ray films showed localized or extensive pulmonary bullae, emphysema, atelectasis, bronchitis, bronchial pneumonia, lung abscess, bronchiectasis, and pulmonary fibrosis. B-ultrasound and CT imaging showed that the pancreas was shrinking, the surface was uneven, extensive fibrosis, cystic dilatation of the pancreatic duct, liver shrinkage, hardening, intrahepatic bile duct dilatation with stones, gallbladder shrinkage, and spleen enlargement.

2. Endoscopy laparoscopic examination will reveal the hardening, fibrosis, irregular surface nodules of the pancreas; hepatic enlargement caused by steatosis, focal or diffuse biliary cirrhosis. Fibroduodenoscopy or visible esophageal varices, duodenal fluid is viscous, ERCP angiography shows segmental cystic enlargement of the pancreatic duct. The crypts seen in the rectal mirror are large, dilated, and retain more thick mucus.

3. Pathological examination of the current imaging progress, under the guidance of B-ultrasound or CT for pancreatic, liver biopsy, safer, under the microscope, pancreatic acinar and glandular ducts are blocked by eosin, and the surrounding fibrous tissue proliferates Inflammatory cells infiltrate; liver tissue is characterized by biliary cirrhosis and stone formation.

Diagnosis and diagnosis of pancreatic cystic fibrosis

Clinically, cases with gastrointestinal insufficiency and chronic respiratory diseases should consider the possibility of the disease. The following points can be used as important clues for diagnosis:

1.90% of cases have diarrhea and malnutrition caused by insufficient pancreatic function, lack of various enzymes in duodenal juice, and lack of trypsin.

2. Obstructive emphysema and chronic bronchopneumonia in both lungs, and repeated attacks.

3. Chloride and sodium in sweat are significantly increased.

4. Have a family history.

5. Have cirrhosis, portal hypertension.

Liver biopsy is the formation of biliary cirrhosis and gallstones.

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