What Is Pancreatic Cystic Fibrosis?

Cystic fibrosis of the pancreas is an autosomal recessive disease. Statistics show that the incidence of this disease is 1 in every 1000 to 5000 people. The disease has obvious racial and regional characteristics.

Basic Information

Visiting department

Gastroenterology

Multiple groups

Infants

Common locations

pancreas

Common causes

Unknown cause or genetic defect

Common symptoms

Fatty diarrhea, slow growth, excessive stools, incomplete formation, cirrhosis, secondary hypoproteinemia, edema, anemia, xerophthalmia, and vitamin K deficiency

Causes of Pancreatic Cystic Fibrosis

The etiology is not very clear. It is usually considered to be a genetic defect, that is, an autosomal recessive genetic disease, caused by a single gene or multiple gene abnormal mutations. Autosomal recessive inheritance occurs only when the pathogenic gene is in the homozygous state (rr). In the heterozygous state (Rr), due to the presence of the normal dominant gene R, the role of the pathogenic gene r cannot be expressed. Although such individuals do not develop disease, they can pass the disease-causing gene r to their offspring and become carriers. In offspring with genetic factors, the probability of pancreatic cystic fibrosis is as high as 25%, and the total probability is equal for both sexes.

Clinical manifestations of pancreatic cystic fibrosis

Symptoms begin to appear within one year of age. In some cases, there are a large number of feces in the neonatal period. Meconium can be a sticky, black substance like putty, and adheres to the intestinal wall, causing meconium intestinal obstruction or peritonitis. In some cases, significant fatty diarrhea does not develop until months later. The child has a good appetite, still does not gain weight, and grows slowly. The amount of feces is large, not formed, and the odor is very serious, 3 to 6 times a day. Some children can develop liver cirrhosis with secondary hypoproteinemia, edema, anemia, xerophthalmia, and vitamin K deficiency. Patients often have respiratory infections, recurrent attacks, severe cases of pneumothorax or hemoptysis, and late-stage common respiratory failure, pulmonary heart disease, and heart failure. The child's sweat, tears, and saliva had increased levels of sodium and chloride. A lot of water and electrolytes are lost during sweating, which can easily lead to collapse.

Pancreatic Cystic Fibrosis

Imaging examination

(1) A plain radiograph of the abdomen shows that the small intestine at the upper end of the obstruction is dilated and inflated or fluid is flat, and small air bubbles (soap bubbles) are scattered in the meconium, which is a typical sign of meconium intestinal obstruction, which is pancreatic cystic One of the important basis for patients with sexual changes. In patients with meconium peritonitis, thin strips or patchy calcifications can still be seen on plain film. Patients with incomplete intestinal obstruction after swallowing the contrast medium, the contrast medium is distributed in segments or masses, the thickness of the intestine is uneven, and the small intestinal mucosa is rough.

(2) X-rays of the chest showed localized or more extensive bullae, emphysema, atelectasis, bronchitis, bronchopneumonia, lung abscess, bronchiectasis, and pulmonary fibrosis.

(3) B-ultrasound and CT imaging showed pancreas shrinkage, uneven surface, extensive fibrosis, and cystic dilatation of the pancreatic duct. The liver was seen to shrink and harden, with intrahepatic bile ducts dilated with stones. The gallbladder shrinks and the spleen enlarges.

2. Endoscopy

(1) Laparoscopy will reveal pancreatic hardening and fibrosis, irregular nodular surface, liver enlargement caused by steatosis, focal or diffuse biliary cirrhosis.

(2) Fibroduodenoscopy or esophageal varices, duodenal fluid is thick, and ERCP imaging shows segmental cystic enlargement of the pancreatic duct.

(3) The crypts are wide, dilated, and thick mucus is retained.

3. Pathological examination

Biopsy of the pancreas and liver under the guidance of B ultrasound or CT is safer. Under the microscope, pancreatic acinars and ducts were blocked by eosinophilic substance, the surrounding fibrous tissue was proliferated and inflammatory cells were infiltrated; the liver tissue showed bile cirrhosis and calculus formation.

Diagnosis of pancreatic cystic fibrosis

There are clinically coexisting cases of gastrointestinal insufficiency and chronic respiratory diseases. The possibility of this disease should be considered:

1.90% of cases have steatosis and malnutrition. Deficiency of various enzymes in duodenal fluid and trypsin deficiency.

2. Obstructive emphysema and chronic bronchial pneumonia in both lungs with recurrent episodes.

3. Chloride and sodium in sweat increased significantly.

4. Have a family history.

5. Liver cirrhosis and portal hypertension.

A liver biopsy was performed for biliary cirrhosis and gallstone formation.

Pancreatic Cystic Fibrosis Treatment

Medical treatment

(1) Improving pancreatic function Properly taking pancreatic enzymes can help food absorption. Those with severe symptoms should appropriately increase the dosage of pancreatic enzymes. Pay attention to adjusting the diet of infants and young children, and give low-fat, medium-sugar, high-protein, high-calorie diets, such as taking medium-chain triglycerides, hydrolyzed proteins, glucose, and multivitamins (fat-soluble vitamin A, vitamin D should be given Double dose), trace element preparations, salts. In severe cases, elemental diet or parenteral nutrition can be given.

(2) Prevention and treatment of lung infections Encouraging sputum, body drainage, steam inhalation and ultrasonic nebulization (plus an appropriate amount of trypsin) inhalation can help sticky sputum be expelled. If a large amount of mucus blocks the bronchi, tracheal suction or bronchoscopy is required. Once cough, shortness of breath, temperature rise, and respiratory tract infection are indicated, the medication can be selected according to oral swab and sputum culture and drug sensitivity test. Generally, continuous administration is required for 10 days. Pseudomonas aeruginosa infection is often the cause of its lethality. Broad-spectrum antibiotics such as ciprofloxacin, carbenicillin, and cefoperazone should be used in a timely manner.

(3) Incomplete meconium intestinal obstruction can use isotonic saline, balanced fluid enema with pancreatin, oral laxatives such as sorbitol and mannitol. Juvenile patients can take 10% N-acetylcysteine orally; or 10% N-acetylcysteine plus pancreatin enema.

(4) Other 1% to 2% of pediatric patients have diabetes mellitus, which can rise to 13% in adults and require insulin therapy. Patients with biliary cirrhosis should protect their liver and biliary.

2. Surgery

(1) Intestinal obstruction Complete meconium intestinal obstruction, combined with intestinal torsion, intestinal necrosis and intestinal perforation require surgery. For meconium-induced intestinal obstruction, incision can be taken to remove the intestinal ostomy and intestinal resection to remove the obstruction.

(2) Children with portal hypertension who have esophageal and gastric varices bleeding should promptly perform portal-body vein shunt surgery. Patients with splenomegaly and hypersplenism have surgical indications.