Congenital Cystic Disease

Congenital Cystic Disease

Fibrocystic disease of the pancreas is a genetically determined (recessive gene of both parents?) disease, with no pre­ponderance for sex. Its incidence is approximately I in 4 siblings and lies between 1:1000 and 1:10,000 in the total population. Although most atten­tion has been focused on the pancreas and the pulmonary complications, it is a general disease involving all mucus-pro – ducing organs, primarily of the alimentary and respiratory tracts. The manifes­tations of this disease are extremely variable, but the history almost always goes back to early infancy. Death usually occurs in infancy or early childhood, although an occasional patient with mild disease now survives to maturity. In about 20 per cent of the cases, impacted meconium causes an intestinal obstruc­tion which necessitates ileostomy, at which operation usually a collapsed and empty colon and distended edematous, dark-red, small intestine are encountered. The latter is filled with tenacious, glue­like meconium, which is apparently pro­duced by excessive mucoid secretion of the mucosal cells and which is very diffi­cult to remove by milking or irrigating. If this complication does not occur or if the patient survives this emergency, the patient is found to be underweight or loses weight despite a good or even a ravenous appetite, and the stools will be bulky, fatty and usually with an offen­sive odor, accentuated by infections. The failure to thrive becomes obvious by the second year of life at the latest. Abdominal distention is typical of those patients who survive beyond a few months but is not invari­ably present, and medical attention is first enlisted usually for acute respiratory infections (bronchitis, bronchiolitis and pneumonitis), which, once they start, recur with increasing residual disability after each attack. Emphysema, chronic pneumonitis, pulmonary fibrosis with reduced respiratory volume, clubbing of fingers, right ventricular stress and, finally, cardiac failure (cor pulmonale) result. The bronchiectasis is distinct from the ordinary type, because the dilatation involves the bronchioles and only the most peripheral bronchi. The scant sputum is thick, viscid and mucoid or mucopurulent. The pulmonary disease is the usual cause of death in those children who survive beyond infancy.

Thick, viscid, mucoid material con­taining little or no trypsin, as obtained by duodenal drainage, confirms the diagnosis. Deter­mination of fecal trypsin is less dependable.

Congenital Cystic Disease

Congenital Cystic Disease

The pathologic findings at autopsy depend upon the age. They vary from moderate abnormalities in the infant to advanced alterations in the older chil­dren. The somewhat lengthened and thinned, slightly hyperemic – pancreas has a fine granular appearance. Its edges are rounded, and the demarcations between head, neck, body and tail are poorly defined. Cystlike structures can be discerned in the fibrotic substance of the gland. In the early stages the mucus-containing ductules are dilated, and the lobules are atrophied to various degrees. In time the dilatation of ductules and acini, the fibrosis of the interlobular tissue, the flat­tening of the cells lining the acini and the lamination of the mucoid secretion progress. Ultimately, fat]y infiltration results. In the younger children the islefs are essentially normal but decrease in number the longer the child survives. The salivary glands are also affected and produce a viscid mucus which plugs the ducts. Local fibrosis is seen in the liver. A small gall­bladder or atrophy and obstruction of the cystic duct are frequently noted. Little more than increased mucus formation is seen in the respiratory tract in the very early stages. Emphysema, areas of pneumo­nitis, peribronchial inflammation and large quantities of viscid mucus in trachea, bronchi and the dilated bronchioli (tubulaj type of bronchiectasis) are char­acteristic of the later stages. Fibrosis of the paren­chyma and peribronchiolar tissue develops after numerous pulmonary episodes.

Treatment is directed toward the control of the pulmonary infections (antibiotics) and dietary meas­ures to improve nutrition (high-caloric, high-protein, low-fat diet, vitamins and pancreatic enzymes), but it can, at best, only prolong life.

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