Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). The principal manifestations of CF include increased concentration of Cl- in exocrine gland secretions, pancreatic insufficiency, chronic lung disease, intestinal blockage and malabsorption of fat, and male and female infertility. Insight into the function of CFTR can be gained by correlating its cell-specific expression with the physiology of those cells and with CF pathology. Determination of CFTR messenger RNA in rat tissues by in situ hybridization shows that it is specifically expressed in the ductal cells of the pancreas and the salivary glands. In the intestine, decreasing gradients of expression of the CFTR gene are observed on both the crypt-villus and the proximal-distal axes. This expression is consistent with CFTR being responsible for bidirectional Cl- transport, secretion in the intestinal crypts and reabsorption in the silivary gland ducts, and suggests that in these tissues CFTR functions as a regulated Cl- channel. In the lung, a broad band of hybridization includes the mucosa and submucosa of the bronchi and bronchioles. In the testis, CFTR expression is regulated during the cycle of the seminiferous epithelium. Postmeiotic expression is maximal in the round spermatids of stages VII and VIII, suggesting that CFTR plays a critical role in spermatogenesis and that deficiency of this function contributes to CF male infertility.
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PMID:In vivo cell-specific expression of the cystic fibrosis transmembrane conductance regulator. 171 39

A 2-week-old baby boy had a periorificial dermatitis that progressively worsened, as did his failure to thrive. Decreased serum zinc, proteins, and amino acids, as well as an increase in fecal fat, were noted. The child's dermatitis responded promptly to nutritional therapy. Sweat chloride levels were markedly elevated. The dermatitis, occasionally seen as a presenting feature of cystic fibrosis, is most likely the result of malabsorption caused by pancreatic exocrine dysfunction.
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PMID:Cystic fibrosis presenting with periorificial dermatitis. 176 67

A cystic fibrosis (CF) clinic for adults was established in 1977. We have reviewed the data on 164 patients who attended between 1977 and 1989. Twenty four patients had died, 11 being over 20 years of age at the time of death. Of the 140 patients still alive, 61% were male and 53% were aged over 20 years. Only 55% were diagnosed by one year and 88% by ten years. Almost all patients had respiratory symptoms and sputum culture yielded pseudomonas species in 69%. Other respiratory problems included major haemoptysis and pneumothorax, each in 10%. We found a wide range of respiratory impairment among older patients. Among 33 patients aged over 23 years, the mean (+/-S.D.) percent predicted FEV1 and FVC were 53.3% (+/- 18%) and 71.4 (+/- 20%) respectively. Mean weight in this group was 92.5% (+/- 14) of predicted. Malabsorption occurred in most patients and meconium ileus equivalent occurred in 34%. Other complications were clinical hepatomegaly (16%), diabetes mellitus (9%) and arthropathy (20%). Most patients were taking continuous antibiotics by mouth (89%) and by nebuliser (48%), beta-2 agonists by inhaler (57%) and oral steroids (29%). Almost all were taking multivitamins, pancreatic replacement therapy and multiple nutritional supplements. The number of CF "bed days" grew 12 fold since 1979 and the mean stay in hospital was double the hospital mean. The economic impact was such that over 1/4 of the annual hospital antibiotic budget was expended on CF patients.
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PMID:Cystic fibrosis in adolescents and adults. 181 18

A cystic fibrosis (CF) clinic for adults was established in 1977. We have reviewed the data on 164 patients who attended between 1977 and 1989. Twenty four patients had died, 11 being over 20 years after time of death. Of the 140 patients still alive, 61% were male and 53% were aged over 20 years. Only 55% were diagnosed by 1 year and 88% by 10 years. Almost all patients had respiratory symptoms and sputum culture yielded Pseudomonas species in 69%. Other respiratory problems included major haemoptysis and pneumothorax, each in 10%. We found a wide range of respiratory impairment among older patients. Among 3 patients aged over 23 years the mean (+/- S.D.) percent predicted FEV1 and FVC were 53.3% (+/- 18%) and 71.4% (+/- 20%) respectively. Mean weight in this group was 92.5% (+/- 14) of predicted. Malabsorption occurred in most patients and meconium ileus equivalent occurred in most patients and meconium ileus equivalent occurred in 34%. Other complications were clinical hepatomegaly (16%), diabetes mellitus (9%) and arthropathy (20%). Most patients were taking continuous antibiotics by mouth (89%) and by nebuliser (48%), beta-2 agonists by inhaler (57%) and oral steroids (29%). Almost all were taking multivitamins, pancreatic replacement therapy and multiple nutritional supplements. The number of CF "bed days" grew 12 fold since 1979 and the mean stay in hospital was double the hospital mean. The economic impact was such that over 1/4 of the annual hospital antibiotic budget was expended on CF patients.
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PMID:Cystic fibrosis in adolescents and adults. 189 94

Cystic fibrosis is the most frequent autosomic recessive disease in Caucasian population (1/2500). It is characterized by the presence of mucosal plugs in the excretory ducts of the exocrine glands. Pancreatic deficiency with intestinal malabsorption and pulmonary injuries are the main signs of the disease. The liable gene was isolated in 1990 on the long arm of chromosome 7. The abnormal protein could modify the passage of chloride through the epithelia. The text reviews the clinical symptoms of the disease and their treatments. An early diagnosis and treatment improve the prognosis which is primarily very bad because of the pulmonary lesions.
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PMID:[Mucoviscidosis]. 205 8

The essential effects of Tocopherol are based on its antioxidative capacity. Tocopherol, however, is just one in a group of antioxidants, which are important for the organism. Established indication for therapeutical application of vitamin E in infancy is only vitamin-E-malabsorption in connection with chronic cholestasis, pancreatic insufficiency (cystic fibrosis) and short bowel syndrome. In emergency therapy vitamin E is suggested with high dosage in case of shock lung and haemolytic-uraemic syndrome. Positive effects of daily vitamin E application in connection with prophylaxis of retinopathy prematurity, bronchopulmonary dysplasia and intraventricular encephalorrhagia of premature infants of severe underweight are not established. Very questionable therapeutic or prophylactic efficiency is opposed to the risk of higher incidence of severe complications in caring for premature infants of severe underweight, such as enterocolitis necroticans and neonatal septicaemia.
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PMID:[The use of vitamin E in childhood]. 209 6

Seventeen children with cystic fibrosis were studied in a 6-week double-blind, placebo-controlled, crossover trial to determine the efficacy of misoprostol, 100 micrograms, four times a day, in improving fat absorption in patients already on pancreatic enzyme therapy. In those patients who had greater than 90% absorption on enzyme therapy alone, no further significant increase in absorption was achieved with misoprostol administration. Those patients who had absorption of less than 90% on standard enzyme therapy showed a significant improvement with misoprostol administration (p less than 0.01). One patient had a significant elevation in the eosinophil count during the period of misoprostol administration, but there were no significant changes in any other hematological or biochemical parameter. Misoprostol appears to be of benefit to those children with cystic fibrosis who have residual malabsorption on standard enzyme therapy.
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PMID:Placebo-controlled trial of misoprostol in cystic fibrosis. 211 50

To investigate the relationship between duodenal pH levels and supplemental pancreatic enzyme function in cystic fibrosis, 18 children with this condition had pH recordings performed from the second and fourth part of the duodenum. Compared to age-matched controls, patients with cystic fibrosis had significantly longer periods below a pH of 4.0 in the postprandial period and significantly less time above pH 5.8. These values correspond to the pH levels at which lipase is irreversibly destroyed (pH 4.0) and enteric coating of enzyme supplements dissolves (pH 5.8). A significant relationship was found between the pH recordings from the fourth part of the duodenum and the degree of residual fat malabsorption while taking enteric-coated enzyme supplements. Four patients with an excessively acidic duodenum and residual fat malabsorption despite high-dose enzyme supplementation were treated with misoprostol (Searle), a known acid-reducing agent. There were significant improvements in both duodenal pH values and fat absorption. We conclude that there is a wide range of duodenal pH values found in patients with cystic fibrosis and that the efficiency with which enzyme supplements work is closely related to these pH levels. Administration of misoprostol to those patients with excessively acidic duodenal pH levels as well as residual malabsorption appears to be of benefit in improving both the excessively acidic pH levels and the fat malabsorption.
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PMID:Duodenal pH in cystic fibrosis and its relationship to fat malabsorption. 212 19

We have evaluated the effect of taurine supplementation nutritional status, steatorrhea and bile acid in twenty two Cystic Fibrosis patients. Weight increased in fifty per cent and height in forty eight per cent of them. Steatorrhea improved significantly in six patients of group II. Glycine/taurine ratio was reduced. Bile acid malabsorption improved only in the patients with high degree of steatorrhea. Serum bile acid was observed significantly elevated in both groups. This results suggest that taurine supplementation can be useful adjunct from of therapy in Cystic Fibrosis patients with fat malabsorption.
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PMID:Effect of taurine supplements on growth, fat absorption and bile acid on cystic fibrosis. 213 Jun 80

Vitamin B12 can bind two carrier proteins in the digestive tract, haptocorrin (R binder) and intrinsic factor, but only its binding to intrinsic factor allows its absorption. A malabsorption of vitamin B12 is observed in about 30% of adult patients with exocrine pancreatic insufficiency, using the Schilling test. None of the hypotheses that have tried to explain this malabsorption are entirely satisfactory. A failure to degrade haptocorrin can prevent the binding of vitamin B12 to intrinsic factor. It has also been suggested that pancreatic secretion could modify the structure of intrinsic factor, enabling the uptake of the vitamin B12-intrinsic factor complex by the ileum. Other factors can also affect the binding of vitamin B12 to intrinsic factor, such as the gastric pH and bile. The Schilling test is abnormal in nearly all cases of cystic fibrosis. One explanation could be the gastric hyperacidity observed in this disease. Despite the frequency of abnormal Schilling tests, vitamin B12 deficiency is very rare in cases of exocrine pancreatic dysfunction, in adults as well as in children with cystic fibrosis. The assimilation of this vitamin with a tracer included in food instead of the crystalline labeled cobalamin used in the Schilling test remains to be investigated.
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PMID:Malabsorption of vitamin B12 in pancreatic insufficiency of the adult and of the child. 223 67


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