PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “CYSTIC FIBROSIS OF PANCREAS”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,495 records · Page 83Linked to original sources
PubMedDate not supplied

[Clinical and histopathologic polymorphism in cystic fibrosis].

After reviewing recent data concerning the pathologic physiology of cystic fibrosis the authors present an anatomoclinical study of 30 infants, of which 13 neonates, with a diagnosis of mucoviscidosiss, emphasizing the clinical and pathohistologic polymorphism of this affection, and, particularly involvement of the liver and intestines. Specific hepatic lesions were encountered in only 10% of the group studied (Bodian biliary cirrhosis and mucus stoppers in the bile ducts). Unspecific hepatic lesions were dominant, common with those of neonatal hepatitis, and hepatic steatosis. Stress is laid on the presence of atrophy of the villi in children with hepatic steatosis, proof of a lesional substrate of malabsorption in this disease. The authors note the early onset of hepatic lesions, the gravity of the cases with an early clinical expression and hepatic biopsy puncture as the only method revealing hepatic affection in cystic fibrosis. In the first semester of life there exists purely digestive forms, hepatic steatosis and oedematous dystrophy in infants at this age being highly suspect of the etiology.

Cystic Fibrosis↗
PubMed1979

Multifocal myocardial necrosis and fibrosis in pancreatic diseases of children.

From a review of 2,000 autopsies of children, 16 cases of extensive necrosis and scarring fibrosis of the myocardium were found. These lesions involved mainly the left ventricle and spared the endocardium, the pericardium, and the coronary vessels. These necrotic of fibrotic heart lesions were found to be closely associated with various pancreatic diseases: cystic fibrosis (11 cases), pancreatic lipomatosis (2 cases), extensive small bowel resection (3 cases, 2 of which were associated with acute interstitial pancreatitis). To explain these unexpected associations, two hypotheses can be put forth: (1) The lack of absorption of some presently undetermined substances indispensable for the correct trophicity of the myocardium, and (2) the release in the blood of proteolytic enzymes with consecutive activation of phlogistic substances such as kinins.

Acute Disease↗
PubMed1993

Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues.

An improved understanding of the expression of the cystic fibrosis gene (CFTR) will assist our approach to preventing the organ damage caused by cystic fibrosis (CF). We have studied the expression of CFTR in human fetal tissues at different gestational ages using in situ hybridization to detect CFTR mRNA. CFTR was principally expressed in less differentiated cells of endodermal origin. The highest levels were seen in specific areas of the developing pancreas, liver, gall bladder and intestine, with lower but significant levels in lung and trachea. Expression was also seen in reproductive tissues, such as epididymis and third trimester uterus and fallopian tubes, and in addition, sweat and salivary glands. No detection of CFTR mRNA was found in many other relevant tissues. The detection of CFTR transcript in these organs is consistent with the clinical manifestations of CF and the function of CFTR as a chloride channel early in development. The localization and levels of expression described have implications regarding the pathogenesis of organ damage and the potential gains that can be achieved by early therapy in the disease.

Cystic Fibrosis↗
PubMed1999

Expression and distribution of the Na(+)-HCO(-)(3) cotransporter in human pancreas.

The cellular mechanisms of HCO(-)(3) secretion in the human pancreas are unclear. Expression of a Na(+)-HCO(-)(3) cotransporter (NBC) mRNA has been observed recently, but the distribution and physiological role of the NBC protein are not known. Here we examined the expression and localization of NBC in human pancreas by Northern blot, immunoblot, and immunofluorescence microscopy. Rat kidney NBC probes detected a single 9.5-kb band by Northern blot. On immunoblots, two polyclonal antisera directed against different epitopes of rat kidney NBC identified a single approximately 130-kDa protein. In cryosections of normal human pancreas, both antisera labeled basolateral membranes of large, morphologically identifiable ducts and produced a distinct labeling pattern in the remainder of the parenchyma. In double-labeling experiments, NBC immunoreactivity in the parenchyma colocalized with the Na(+)-K(+) pump, a basolateral marker. In contrast, NBC and cystic fibrosis transmembrane conductance regulator, an apical membrane marker, were detected within the same histological structures but at different subcellular localizations. The NBC antisera did not label acinar or islet cells. Our observations suggest that secretion of HCO(-)(3) by human pancreatic duct cells involves the basolateral uptake of Na(+) and HCO(-)(3) via NBC, an electrogenic Na(+)-HCO(-)(3) cotransporter.

Aged↗
PubMed1992

The spectrum of CFTR mutations in south-west German cystic fibrosis patients.

The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 110 cystic fibrosis (CF) patients from the south-west of Germany was screened for 12 different mutations. This analysis resulted in an identification of 79% of all CF mutations and a complete genotype in 66% of the families. The most common mutation found was delta F508 (67%). Another 5 mutations accounted for a further 12.5% (4% G542X; 3% R553X; 3% N1303K; 2% 1717-1 G-->A; 0.5% G551D) whereas 6 mutations (R117H, A455E, delta I507, S549I, S549N, and R1162X) were not found. Fifty-four (49%) patients were delta F508 homozygotes and 18 (16.5%) were compound heterozygotes for delta F508 and one of the rarer mutations. These frequencies differ slightly from those found in the north of Germany and considerably from those reported from the south of Europe, which seems to be consistent with a north to south decline of the relative abundance of delta F508. Two patients, age 6 and 25 years, were compound heterozygotes for G542X and N1303K. The clinical features of the 6 year old were characterised by severe gastrointestinal and as yet only mild pulmonary complications whereas the 25 year old manifested severe pulmonary and gastrointestinal symptoms indicating that the N1303K mutation of the C-terminal CFTR nucleotide binding fold significantly impairs protein function in both the pancreas and the lungs.

Adolescent↗
PubMed2000

Evaluation of fecal pancreatic elastase-1 as a measure of pancreatic exocrine function in children with cystic fibrosis.

Pancreatic elastase-1 (EL-1) is a specific human protease synthesised by the acinar cells. It is stable, unaffected by exogenous pancreatic enzyme treatment, and correlates well with stimulated pancreatic function tests. We report our experience of EL-1 measurements in 142 patients from a large cystic fibrosis (CF) clinic. The median patient age was 7.7 years (range, 0.1-20.8 years), 93 were homozygous and 38 heterozygous for DeltaF508, and 11 had other or unidentified mutations. There were 85 non-CF control subjects. Seven were pancreatic sufficient (PS). The median (quartile 1-quartile 3) fecal EL-1 of the 135 pancreatic insufficient (PI) patients was 10 microg/g stool (2.5-33); of the 7 PS patients, 698 microg/g stool (400.5-824.5), and of the non-CF controls, 615 microg/g stool (420-773). Using the Mann-Whitney U test, there was a statistically significant difference for fecal EL-1 activity between the PS and PI patients (P = 0.0001) and the PI and control group (P < 0.0001), but not between the control and PS groups (P = 0.63). Median (quartile 1-quartile 3) fecal EL-1 in the pancreatic insufficient DeltaF508 homozygotes was 10 microg/g stool (2-33), and in the heterozygotes 12 microg/g stool (4-39) (not significant, P = 0.62). We now use fecal EL-1 as evidence of PI in screened CF infants (reliable over the age of 2 weeks); in older CF patients at diagnosis; for confirming the need for pancreatic enzymes in patients referred to the clinic already taking enzymes; for annual monitoring of PS patients to detect the onset of PI; and as supporting evidence when excluding the diagnosis of CF in patients attending the pediatric gastroenterology clinic. The low values in the first 2 weeks in some normal and premature infants, and the persisting normal values in PS infants, make the fecal EL-1 test unsuitable for neonatal CF screening.

Adolescent↗
PubMed1993

Feeding practices and nutrition recommendations for infants with cystic fibrosis.

Cystic fibrosis (CF) is an autosomal recessive disease characterized clinically by recurrent respiratory tract infections and malabsorption caused by pancreatic insufficiency. Typically diagnosed during infancy or childhood, CF impairs weight gain and growth, increases susceptibility to infection, and decreases longevity. Until recently, no guidelines for infant feedings were available. A consensus report prepared through the Cystic Fibrosis Foundation summarizes guidelines for the optimal nutrition management of patients with CF. This study identified current feeding practices and nutrition recommendations of dietitians who treat infants with CF and compared them with the recommendations of the consensus report. A survey was developed and sent to dietitians (n = 130) who work in accredited cystic fibrosis centers. Eighty-six dietitians (66%) responded after two mailings, and 75 usable surveys were analyzed. The survey investigated practitioners' recommendations for infant formulas, energy intake, nutritional supplements, and pancreatic enzyme supplementation. Protein hydrolysate infant formulas were recommended by most respondents (69%). Energy intake greater than 130% of the Recommended Dietary Allowances (RDAs) was recommended for well-nourished infants with CF and greater than 140% of the RDAs for malnourished infants with CF at 1 year of age. Formula additives, including fat and carbohydrate modules, were used by all respondents and were frequently added to infant foods to increase caloric density. Enteric coated pancreatic enzymes were used by the majority (76%) of dietitians. These findings indicate that most dietitians follow the nutrition guidelines established by the Cystic Fibrosis Foundation consensus report for goals for energy and protein intake, use of nutritional supplements, and replacement of pancreatic enzymes in infants with CF.

Cystic Fibrosis↗
PubMed1992

Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland.

Misprocessing and mislocalization of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) has been described for the major CF-causing mutation (delta F508) in heterologous expression systems in vitro. We have generated monoclonal antibodies (mAbs) to CFTR with the aim of localizing the protein and its CF variants in vivo. Of the tissues where CFTR was observed, only the sweat gland is readily available and does not undergo secondary changes due to CF disease pathology. Sweat ducts from CF patients homozygous for delta F508 did not show the typical apical membrane staining seen in control biopsies. This demonstrates that the biosynthetic arrest and intracellular retention of delta F508 CFTR initially observed in vitro does occur in vivo and emphasizes the need to focus efforts on understanding the mislocalization.

Amino Acid Sequence↗
PubMed2002

The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins.

ClC chloride channels are widely distributed in organisms across the evolutionary spectrum, and members of the mammalian family play crucial roles in cellular function and are mutated in several human diseases (Jentsch, T. J., Stein, V., Weinreich, F., and Zdebik, A. A. (2002) Physiol. Rev. 82, 503-568). Within the ClC-3, -4, -5 branch of the family that are intracellular channels, two alternatively spliced ClC-3 isoforms were recognized recently (Ogura, T., Furukawa, T., Toyozaki, T., Yamada, K., Zheng, Y. J., Katayama, Y., Nakaya, H., and Inagaki, N. (2002) FASEB J. 16, 863-865). ClC-3A resides in late endosomes where it serves as an anion shunt during acidification. We show here that the ClC-3B PDZ-binding isoform resides in the Golgi where it co-localizes with a small amount of the other known PDZ-binding chloride channel, CFTR (cystic fibrosis transmembrane conductance regulator). Both channel proteins bind the Golgi PDZ protein, GOPC (Golgi-associated PDZ and coiled-coil motif-containing protein). Interestingly, however, when overexpressed, GOPC, which is thought to influence traffic in the endocytic/secretory pathway, causes a large reduction in the amounts of both channels, probably by leading them to the degradative end of this pathway. ClC-3B as well as CFTR also binds EBP50 (ERM-binding phosphoprotein 50) and PDZK1, which are concentrated at the plasma membrane. However, only PDZK1 was found to promote interaction between the two channels, perhaps because they were able to bind to two different PDZ domains in PDZK1. Thus while small portions of the populations of ClC-3B and CFTR may associate and co-localize, the bulk of the two populations reside in different organelles of cells where they are expressed heterologously or endogenously, and therefore their cellular functions are likely to be distinct and not primarily related.

Amino Acid Sequence↗
PubMed1976

Cystic fibrosis.

Explore the source record for details and available documents.

Biological Transport↗
PubMed1980

Lingual lipase: an important lipase in the digestion of dietary lipids in cystic fibrosis?

A convenient lipase assay that discriminates between pancreatic and lingual lipase activities was developed to describe some properties of the triglyceride-hydrolyzing activities of lingual lipase (from von Ebners glands) and pancreatic lipase. Secretion of lingual lipase is stimulated by feeding. Gastric contents collected postyprandially from patients with cystic fibrosis (CF) contained lipase activity which is probably secreted from pharyngeal tissues. Also, duodenal contents from CF patients contained lipase activity with properties very close to those found in gastric contents from CF patients and controls. Apparently, the serous glands responsible for the secretion of lingual lipase is less affected than the exocrine pancrease in this disease. During fat balance experiments, CF patients utilized around 40% of the dietary lipids and more than 50% of milk lipids given as a test meal were hydrolyzed in the duodenum within 2 hr. In these patients with severe pancreatic insufficiency, we suggest that the lingual lipase is responsible for a considerable proportion of triglyceride hydrolysis. This hydrolysis starts in the stomach and continues in duodenum.

Adult↗
PubMedDate not supplied

[Comparison of faecal lipase test and faecal elastase-1 test in the assessment of exocrine pancreatic function in cystic fibrosis].

OBJECTIVE: In pediatric patients, indirect tests are preferred because of their less invasive character. Among those, faecal elastase-1 test has so far been shown been shown to have the highest sensitivity and specificity. However, the role of the faecal lipase test in the diagnostic work up for pancreatic insufficiency in cystic fibrosis (CF) patients has not been defined. Therefore, the aim of the present study was to compare the sensitivity and the specificity of faecal lipase test to the faecal elastase-1 test in the assessment of exocrine pancreatic function. MATERIAL AND METHODS: 63 CF patients and 95 healthy subjects (HS) were evaluated. In all subjects, faecal elastase-1 concentration (ELISA) and lipase activity (ELISA) were measured. In 50 HS, sample-to-sample (n=3) variation from the same stool and day-to-day variation from three consecutive stools were determined twice. The presence of pancreatic insufficiency patients was documented in 55 pancreatic insufficient CF patients by the determination of faecal fat excretion and in 12 pancreatic sufficient patients by the direct test. The sensitivity and specificity of the faecal elastase-1 test and faecal lipase test were compared. RESULTS: The sample-to-sample variation (mean + SEM: 13.2+1.2% vs. 23.4+2.2%) and day-to-day variation (mean + SEM: 16.3+1.2% vs. 32.5+2.6%) were significantly lower (p<0.0001) for elastase-1 determinations than for lipase measurements. With the cut-off levels giving the same specificity for both tests (95.8%), the sensitivity of faecal elastase-1 test (87.3%) was significantly higher (p<0.04) than that of faecal lipase test (77.8%). IN CONCLUSION: Faecal lipase test is less useful in the assessment of exocrine pancreatic function sensitive than faecal elastase-1 test.

Adolescent↗