[Morphological changes in children with mucoviscidosis].
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Approximately 3,000 microslides of hematoxylin and eosin (HE)-stained sections of pancreas from 1,000 nonhuman primates were reviewed. Sections were from 557 females and 443 males; 658 were adults of unknown age and 342 were laboratory-born animals of known age. The latter included 94 animals less than one year old, 92 from one to five years old, and 156 from five to more than 20 years old. There were 326 squirrel monkeys, 319 rhesus monkeys, 100 great apes, 123 other macaques, 61 other Old World monkeys, 39 other New World monkeys, and 32 prosimians. Pancreatic lesions of varied severity found in 187 (18.7%) of these nonhuman primates included focal parenchymal or periductal accumulations of mononuclear inflammatory cells with varied degrees of periductal fibrosis in 77; hyalinized islets (amyloidosis) in 29; acute or chronic diffuse pancreatitis in 18; chronic focal pancreatitis with or without ductal hyperplasia in ten; neoplasms in 11; hemorrhage of the parenchyma or islets in eight; parasites in seven; lymphoid or ectopic splenic nodules of the parenchyma in six; acinar ectasia in six; focal parenchymal fat in six; ectopic pancreas in four; parenchymal cysts without fibrosis in three; acinar cell atrophy in one; and cystic fibrosis-like changes in one.
We examine critically the biochemical methods capable of detecting and monitoring the end-organ disease processes in patients with cystic fibrosis. Although the diagnosis of cystic fibrosis is never justified on the basis of the sweat salt test alone, the original filter-paper technic (Gibson-Cooke, Pediatrics 23:545-549, 1959) for determining Na+ and Cl- concentrations in sweat remains the most discriminating method. We discuss the contributions for neonatal screening of the so-called cystic fibrosis protein, associated decreased enzymic activities in the homo- and heterozygous state, and immunoreactive trypsin. Because evidence of either intestinal malabsorption or a pancreatic lesion must be sought, we review the use and interpretation of some tests of pancreatic dysfunction (meconium albumin, duodenal juice components, serum pancreatic isoamylase, and trypsinogen), both in establishing and in confirming the diagnosis of cystic fibrosis.
Cystic fibrosis (mucoviscidosis) is a genetic disorder characterized by dysfunction of the exocrine glands. Ninety percent of the morbidity and mortality is due to repeated pulmonary infections and respiratory impairment. Pancreatic disease and intestinal complications result from thick, tenacious mucous secretions. Aggressive medical therapy has improved the prognosis. The family physician plays an important role in dealing with the psychologic and social aspects of the disease, as well as the medical management.
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Pancreatic size and pancreatic echo amplitude were examined to determine their value for distinguishing chronic pancreatitis from normal. Using patients with cystic fibrosis as a model for chronic pancreatitis, a prospective study was performed comparing 16 patients with this disease and 16 normals. Absolute measurements of the pancreatic body and the ratio of pancreatic size to vertebral body size were determined. Pancreatic echo amplitude was both measured clinically from the B-scan and evaluated in a blind review by seven observers. The pancreases of cystic fibrosis could be distinguished on the basis of echo amplitude with sensitivity and specificity of 94 per cent and 100 per cent for direct B-scan echo amplitude measurements and 74 per cent and 88 per cent for reviewers. Pancreatic size was of no value as a distinguishing characteristic, probably because as the diseased pancreas increases in echo amplitude by fat and fibrous tissue replacement, it blends imperceptibly with the peripancreatic soft tissues. Measurement of pancreatic size in chronic pancreatitis is therefore inaccurate and probably overestimated.
Malabsorption of nutrients in cystic fibrosis (CF) has a multifactorial origin. The factors involved in malabsorption include malfunction of the exocrine pancreas and liver, bile acid metabolism, and disordered intestinal resorptive processes. Therapeutic measures presently employed are only partially effective. Improvement of fat malabsorption is attained by using a pancreatic enzyme supplement consisting of pH-sensitive, enteric-coated microspheres (microsphere preparations) that prevent enzyme degradation in the stomach and travel with the chyme to the small intestine. Microsphere preparations, however, do not improve bile salt deficiency. The detergent Tween-80, given orally to simulate bile salt activity, does not improve fat absorption. The mucus viscosity is probably enhanced in the intestinal epithelium of CF patients and can be decreased by N-acetylcysteine, which breaks down sulfide bonds. However, the addition of a high oral dose of this mucus solvent to pancreatin preparations does not improve fat absorption. Further studies on the disturbed intestinal resorptive mechanism seem warranted since recent investigations point to an abnormal chloride secretion as the primary defect in the intestinal epithelia of CF patients.
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Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasian population that involves the lungs, pancreas, sweat glands, intestine, liver and reproductive tract. The majority of men with CF are infertile due to a bilateral congenital absence of the vas deferens (CBAVD). The purpose of the research was to evaluate the occurrence frequency of alleles of CFTR gene in patients with azoospermia. Twenty four men from sterile marriages were examined in whom spermatozoa were not found in 2-3 successive examinations of their semen. In every patient the basic concentration in blood of FSH, LH, PRL and testosterone was determined and ultrasonography of gonads, vas deferens, prostate and spermatic vesicles was performed. The INNO-LIPA CF2 test was used to the screening for the eight most frequently identified mutations in Caucasian population: DF508, G542X, N1303K, 1717-1(G- > A), W1282X, G551D, R553X i DI507. The test is based on the reverse-hybridization method. Carrier-state of one mutated allele was detected in 3 men (12.5% examined causes). In two men DF508 mutation and in one W1282X mutation were detected. The data suggest that the CFTR protein may be involved in the process of spermatogenesis apart from playing a critical role in the development of the vas deferens.
Radioimmunoassays for plasma pancreatic enzymes, especially cationic trypsin, are good tools to diagnose pancreatic pathology. The trypsin assay is very sensitive. Its detection limit is 300 pg/ml. The plasma level of this enzyme appears to be representative of pancreatic function. This assay was shown to be valuable in the diagnosis of acute pancreatitis, and to follow the course of the disease. In chronic pancreatitis, it enables assessment of residual function of the organ. In the terminal stage of this disease, very low values were found. Used as a screening test, the assay allowed early detection of cystic fibrosis.