bubble_chart Overview

Cystic fibrosis of the pancreas is a congenital condition in infants characterized by widespread cystic degeneration of the pancreas. The lesions may involve multiple organs or glandular tissues (such as the pancreas, lungs, liver, or sweat glands) and are caused by dysfunction of multiple exocrine glands. This disease was first described by Fanconi in 1936 and named "cystic fibrosis of the pancreas." It is extremely rare, with a slightly higher incidence among children in Europe and America.

bubble_chart Pathological Changes

In pathology, an abnormal mucus abdominal mass can be observed, causing obstruction in the pathways of the pancreas, liver, lungs, and small intestine, leading to significant clinical symptoms.

1. Pancreas

The parenchymal cells of the pancreas atrophy and disappear, with interstitial fibrous tissue hyperplasia; amorphous eosinophilic substances block the pancreatic acini and their lumens, resulting in cystic dilation; inflammatory changes in the pancreas are also evident, but the islet tissue remains normal. The entire pancreas becomes hardened with an irregular surface. Due to insufficient formation or difficulty in the discharge of pancreatic juice and enzymes (amylase, lipase, and protease), the exocrine function of the pancreas decreases, impairing food digestion and absorption. Despite adequate dietary intake, patients may still experience weight loss, malnutrition, and developmental delays.

2. Lungs

Almost all patients exhibit respiratory involvement. Reduced secretion of respiratory mucus, abnormal mucus composition, and altered physicochemical properties make it difficult to expel large amounts of thick mucus, leading to bronchial obstruction. This pathology can extend from the main bronchi to the smaller bronchioles, exacerbating the condition, and some patients may develop atelectasis. Consequently, patients often present with chronic cough, thick sputum, and recurrent bronchial infections.

3. Meconium ileus

In 10–15% of children with cystic fibrosis of the pancreas, thick and sticky meconium accumulates in the intestines shortly after birth, causing intestinal obstruction; dry fecal masses block the intestinal lumen.

4. Liver

Gross specimens reveal small, depressed sclerotic sexually transmitted disease foci. Histological examination shows bile ductules blocked by eosinophilic amorphous substances, surrounded by fibrous tissue hyperplasia and inflammatory reactions. Approximately 25% of patients exhibit focal gall fel liver cirrhosis; when multiple focal sexually transmitted disease lesions merge, diffuse gall fel liver cirrhosis develops, potentially complicating into portal hypertension.

Additionally, in patients with cystic fibrosis of the pancreas, the concentrations of chloride and sodium in sweat and salivary gland secretions are 2–5 times higher than in normal individuals, with no significant changes in potassium levels. The excessive loss of chloride and sodium can lead to electrolyte imbalances.

bubble_chart Clinical Manifestations

Most patients with pancreatic cystic fibrosis present with symptoms of maldigestion and malabsorption due to pancreatic exocrine insufficiency and pulmonary insufficiency.

(1) Steatorrhea and malnutrition, with the patient's stool appearing greasy and having a peculiar odor.

(2) Recurrent episodes of bilateral chronic bronchopneumonia and obstructive lung disease, with thick and sticky sputum.

(3) Manifestations of intestinal obstruction such as abdominal distension and fullness, vomiting, abdominal protrusion, and hyperactive borborygmi, known as meconium ileus.

bubble_chart Auxiliary Examination

1. Laboratory Tests

(1) Measurement of trypsin

(2) Concentration of chloride and sodium in sweat

2. X-ray Examination

(1) The manifestations of meconium ileus are similar to those of general small intestine obstruction, but the intestinal tract above the obstruction is notably more dilated and distended, with no distinct termination of the distended bowel. Due to the presence of scattered small air bubbles in the meconium, the X-ray shows spotty or granular translucent shadows, known as the soap bubble sign.

Patients with incomplete intestinal obstruction may undergo a barium meal examination, which reveals uneven thickness of the intestinal tract, with barium distributed in a scattered or clumped pattern, and thickening of the small intestine mucosa.

(2) Pulmonary X-ray findings may include the following three types: ① Bronchial obstruction: Due to the viscosity of secretions in the bronchi, partial bronchial blockage may occur temporarily, leading to partial or extensive lung emphysema, or segmental or lobar atelectasis. ② Pulmonary infection: Due to bronchial obstruction, various pulmonary infections may develop, such as bronchitis, peribronchitis, lobular or lobar pneumonia, lung abscess, etc. ③ Pulmonary fibrosis: Repeated episodes of bronchial obstruction and infection can cause extensive fibrosis of lung tissue and may lead to cor pulmonale.

3. Histomorphological Examination:

The pancreas becomes hard, with an irregular nodular or fibrotic surface. The liver surface shows small, depressed sclerotic lesions; liver biopsy may reveal multilobular or focal biliary cirrhosis and nodule formation.

bubble_chart Diagnosis

1. The deficiency of various enzyme components such as trypsin in duodenal fluid is of significant diagnostic importance.

2. The concentration of chloride and sodium in sweat is significantly elevated. Normal sweat chloride concentration ranges from 4 to 60 mmol (average 27 mmol), while sodium ions range from 10 to 80 mmol (average 52 mmol). In patients with cystic fibrosis of the pancreas, chloride levels reach 50–160 mmol (average 106 mmol), and sodium concentrations range from 80 to 190 mmol. Measuring the concentration of chloride and sodium in sweat has become one of the diagnostic methods for cystic fibrosis of the pancreas, with an accuracy rate of 99%.

3. A family history of this disease also aids in its diagnosis.

4. Combining X-ray examination, barium meal, and histomorphological examination makes diagnosis straightforward.

bubble_chart Treatment Measures

The treatment of patients with pancreatic cystic fibrosis is mainly symptomatic, but the prognosis is poor, and few patients survive beyond the age of 30.

1. Management of pancreatic exocrine insufficiency primarily involves dietary therapeutics, adopting a high-calorie, high-protein, low-fat, and multivitamin diet, along with increased salt intake. Exogenous pancreatic enzyme preparations, such as multienzyme tablets and pancreatin tablets, should be supplemented to enhance digestive function.

2. Control of respiratory infections is crucial. For patients with respiratory infections, effective antibiotics should be selected based on the condition, typically administered continuously for 10 to 14 days.

3. Relief of intestinal obstruction. If the patient has meconium ileus, surgical intervention is required. During the procedure, the thick meconium in the intestines can be squeezed into the terminal ileum or colon; alternatively, it can be expelled from the body, but peritoneal contamination should be avoided. If the meconium is extremely thick and difficult to squeeze out, the affected segment of the intestine may be resected, followed by end-to-end anastomosis.

bubble_chart Complications

It can be complicated by various pulmonary infections, such as bronchitis, peribronchitis, lobular or lobar pneumonia, lung abscess, etc.