Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystic fibrosis is the most common fatal inherited disease of Caucasians. At present, cystic fibrosis accounts for most cases of chronic progressive pulmonary disease and for many other clinical features in the first three decades of life. Thus, it is a challenge to both pediatricians and internists, particularly chest physicians. The diagnosis is based on the triad of chronic obstructive pulmonary disease, pancreatic insufficiency, and increased levels of electrolytes in the sweat. The cardinal test for confirmation of the diagnosis is the "sweat test," which is an excellent discriminant for cystic fibrosis, even in adults. Ancillary features of cystic fibrosis may be of diagnostic assistance (eg, nasal polyposis, Pseudomonas aeruginosa in sputum, azoospermia, and others). Treatment of the pulmonary disease must be emphasized. Choice of antibiotics should be based on the results of sputum culture, but P aeruginosa is the most common pathogen. Removal of secretions by regular postural drainage and percussion is an integral part of the program. Pneumothorax, massive hemoptysis, cor pulmonale, and other complications may be encountered. Sinusitis is almost universal, and nasal polyposis is frequently present. Pancreatic insufficiency occurs in over 80 percent of the patients with cystic fibrosis and may result in intestinal malabsorption. Massive salt loss through the sweat in hot weather, a distinctive type of biliary cirrhosis without jaundice, gallbladder abnormalities, cholelithiasis, and diabetes mellitus also may be found. Of special importance are intestinal obstructive complications (meconium ileus in newborn infants with cystic fibrosis and intestinal obstruction due to fecal accumulation or intussusception in adults). Azoospermia is present in 95 percent of men and there is reduced fertility in women; however, pregnancy does occur in cystic fibrosis. This chronic and ultimately fatal disease produces a predictable set of psychosocial complications.
 ...
PMID:Diagnosis and treatment of cystic fibrosis. An update. 637 70

We report the incidence of normal (50.4%), increased (46.7%), and decreased (2.9%) anion gap among hospitalized patients in a retrospective study. The mean and range of increased anion gaps were 25 and 19-28 mmol/L. Values exceeding 30 mmol/L were uncommon and may indicate either acidosis or laboratory error. The most common causes of the increased anion gap among patients were chronic renal failure, congestive heart failure, malignant neoplasm, and diabetes mellitus. Increased anion gap in this study may be due to excess acids along with decreases in sodium, chloride, and carbon dioxide. The mean and range of decreased anion gap were 6 and 3-8 mmol/L. Anion-gap values less than 3 mmol/L were uncommon (one of 500 cases), and a high incidence of such values may indicate laboratory error. Nephrotic syndrome, liver cirrhosis, intestinal obstruction, and severe hemorrhage were the common disorders associated with decreased anion gap, which resulted from hypoalbuminemia and hyponatremia. Although most patients with decreased anion gap had hypoalbuminemia, hypoalbuminemic patients did not necessarily have decreased anion gap.
 ...
PMID:Value of the anion gap in clinical diagnosis and laboratory evaluation. 682 31

Data from 17,857 patients with cystic fibrosis submitted in 1990 to the registry maintained by the Cystic Fibrosis Foundation were used to described their demographic characteristics, survival rates, pulmonary function, anthropometry, microbiologic data, complication rates, and health care utilization. Comparisons with similar data collected in 1969, 1972, and 1978 demonstrated a significant shift in the age distribution of patients with cystic fibrosis. The proportion of adult patients increased fourfold between 1969 (8%) and 1990 (33%). In 1990 the median age of all patients in the cystic fibrosis registry was 12.5 years; the median age at diagnosis was 7 months; cystic fibrosis was diagnosed in 90% of all patients by age 12 years. Meconium ileus at birth was reported for 16% of all patients with a new diagnosis in 1990. Median survival age doubled between 1969 and 1990, from 14 to 28 years. Female patients consistently had a lower median survival age than male patients (25 vs 30 years in 1990). The most frequently reported respiratory pathogen was Pseudomonas aeruginosa, cultured in specimens from 61% of all patients, ranging from 21% of those less than 1 year of age to more than 80% of those aged 26 years or older. Overall, patients with cystic fibrosis are living much longer than in the past but still have chronic pulmonary infections and other medical complications related to their disease, including diabetes, intestinal obstruction, cirrhosis, hemoptysis, and pneumothorax.
 ...
PMID:The changing epidemiology of cystic fibrosis. 832 Jun 18

Progressive familial intrahepatic cholestasis (PFIC) presents in early childhood with pruritus, jaundice, hepatomegaly, and growth failure. Medical therapy is unsuccessful, with progression from cholestasis to hepatic fibrosis, cirrhosis, and ultimately death before the age of 10 years. Because of evidence that biliary diversion can arrest or reverse progression to hepatic fibrosis, we have used partial biliary diversion (PBD) as primary therapy in PFIC, reserving orthotopic liver transplantation (OLT) for children who have progressive disease or established cirrhosis. Seventeen children with PFIC (aged 2 months to 19 years) have been treated. PBD was performed in eight cases. In these procedures, a 10-cm properistaltic jejunal segment was anastomosed to the side of the gallbladder, terminating as an end stoma for the collection and discard of bile. Eleven patients with hepatic insufficiency (or end-stage cirrhosis) received OLT using standard techniques, at the average age of 4 years. Six of the eight children treated with PBD had complete resolution of clinical symptoms and remain well 1 to 13 years postoperatively. These six patients have conjugated bilirubin values of less than 0.3 mg/dL, normal transaminases, and a serum bile salt concentration of less than 10 nmol/mL. All have had either reversal or no progression of the hepatic fibrosis. Postoperative bleeding complications occurred in two (25%), which required reoperation. One patient had an adhesive intestinal obstruction that was managed surgically 9 months postoperatively. Two patients had no benefit from PBD, and all of them had severe bridging fibrosis (1) or cirrhosis (3). These and nine others with cirrhosis at the time of presentation received orthotopic liver transplantation; of these, eight are alive (1 to 5 years postoperatively). These results show the importance of establishing a correct diagnosis in children with cholestasis. Clinical symptoms often are severe in children with PFIC before the development of irreversible hepatic fibrosis. Because several patients who appear to have been cured with PBD initially were scheduled for OLT, it is important that transplant surgeons recognize the feasibility of this approach.
 ...
PMID:Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease). 874 12

Between 1960 and 1994 cystic fibrosis was found in nine out of 1474 infants investigated for neonatal cholestasis. Four had delay in passing meconium. In all patients cholestatic jaundice was present during the first 48 hours and in three patients cholestasis was complete, mimicking biliary atresia. Serum cholesterol concentrations were normal in all but two children. Sweat chloride was repeatedly above 95 mmol/l in all instances. Three children had another condition enhancing the risk of cholestasis (alpha1-antitrypsin deficiency, hypopituitarism, perinatal asphyxia, and total parenteral nutrition). Liver histology displayed portal fibrosis and inflammation with bile duct proliferation; mucous plugs in bile ducts were observed in only one patient. Only one child died from cirrhosis. These results indicate that cystic fibrosis is not a major cause of neonatal cholestasis. However early signs of intestinal obstruction and low concentrations of serum cholesterol may indicate cystic fibrosis, regardless of liver histology. Neonatal cholestasis has no prognostic value concerning evolution to cirrhosis.
 ...
PMID:Neonatal cholestasis as the presenting feature in cystic fibrosis. 881 74

Cystic fibrosis (CF), the most common lethal autosomal recessive disease in white populations, is characterized by dysfunctional chloride ion transport across epithelial surfaces. Although recurrent pulmonary infections and pulmonary insufficiency are the principal causes of morbidity and death, gastrointestinal symptoms commonly precede the pulmonary findings and may suggest the diagnosis in infants and young children. The protean gastrointestinal manifestations of CF result primarily from abnormally viscous luminal secretions within hollow viscera and the ducts of solid organs. Bowel obstruction may be present at birth due to meconium ileus or meconium plug syndrome. Complications of meconium ileus include volvulus, small bowel atresia, perforation, and meconium peritonitis with abdominal calcifications. Older children with CF may present with bowel obstruction due to distal intestinal obstruction syndrome or colonic stricture, and tenacious intestinal residue may serve as a lead point for intussusception or cause recurrent rectal prolapse. Radiologic studies often demonstrate thickened intestinal mucosal folds in older children and uncommonly show colonic pneumatosis, peptic esophageal stricture due to gastroesophageal reflux, and duodenal ulcer. Appendicitis due to inspissated secretions is uncommon. Obstruction of ducts and ductules produces exocrine pancreatic insufficiency, pancreatitis, cholestasis, cholelithiasis, and cirrhosis with portal hypertension. On imaging studies, the pancreas is commonly small and largely replaced by fat, sometimes displays calcifications, and is rarely replaced by macrocysts. Radiologic features of hepatobiliary disease include an enlarged radiolucent liver from steatosis, gallstones, a shrunken nodular liver, splenomegaly, and portosystemic collateral vessels. With the improved survival of CF patients, an increased risk for developing gastrointestinal carcinomas has been established, many occurring as early as the 3rd decade.
 ...
PMID:Gastrointestinal manifestations of cystic fibrosis: radiologic-pathologic correlation. 883 77

Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population. The primary cellular defect, the reduced expression of the cystic fibrosis transmembrane conductance regulator (CFTR), leading to a chloride secretory defect, is present in all epithelial cells of endodermal and mesodermal origin and has been described in sweat glands, the airway epithelium and the small intestine, the colon and rectum, including the pancreas. In the upper GI-tract the most troublesome complaints and symptoms originating from the esophagus are peptic esophagitis or esophageal varices. In the small intestinal wall, the clinical expression of CF largely depends on the decreased secretion of fluid and chloride ions and the sticky mucous covering the enterocytes. Although CFTR expression in the colon is lower, the large intestine may be the site of several serious complications such as rectal prolapse, distal intestinal obstruction (DIOS), and intussusception. In recent years an increase in colonic strictures after the use of high-dose pancreatic enzymes, has been increasingly reported. CF has also been reported to be increasingly associated with a number of hepatic and/or biliary abnormalities, of which chronic cholestatic liver disease is by far the most relevant. Plugging of intrahepatic bile ducts with inspissated secretions is thought to play a major role in the pathogenesis. It has been estimated that about 15% of cystic fibrosis patients reveal serum liver enzyme abnormalities, but prevalence of liver involvement is likely to be higher. Oral bile acid therapy is promising, but its long-term benefits in terms of survival and prevention of major complications by liver cirrhosis remain to be established. Pancreatic dysfunction in cystic fibrosis (CF) is characterized by an insufficient pancreatic exocrine function. However, 10-15% of CF patients have pancreatic sufficiency and this status is genetically determined by one or two "mild" mutations in the CFTR.
 ...
PMID:[Gastrointestinal complications of adult patients with cystic fibrosis]. 1049 10

We have studied the characteristics of 202 cystic fibrosis adult patients, all with chronic respiratory symptoms, with a median age of 27 yrs (18 to 55 yrs) and a male predominance (56%). At genetic analysis, delta F508 homozygotes were 41%, delta F508 heterozygotes 42% and 17% had no delta F508. The respiratory disease was more severe and complications were more frequent in adults: hemoptysis in 14%, pneumothorax in 15%, lung transplantation in 25 patients. Chronic bronchial colonisation with Pseudomonas aeruginosa, in 76% of patients, contributed to making treatments more severe because of antibiotic i.v. courses and nebulised antibiotics. Respiratory function showed a mean FVC of 62 +/- 22% and a mean FEVI of 48 +/- 94%. External pancreatic insufficiency was found in 83%, diabetes in 14%. Intestinal occlusion syndromes were observed in 11% of patients and hepatic cirrhosis in 8%. In spite of the severity of the respiratory disease, theses patients succeeded in social and occupational insertion; 62% were independent, 18% had children and 77% were working or studying. Analysis of the patients according to age at diagnosis showed that, in 38 patients diagnosed after the age of 18 yrs, the respiratory disease was less severe, pancreatic insufficiency and non-respiratory complications were less frequent (34% had pancreatic insufficiency, 5% had diabetes and none had cirrhosis). This may partly be due to the presence of milder CFTR mutations. In conclusion, cystic fibrosis in adulthood frequently looks like an evolutive form of cystic fibrosis in childhood. Nevertheless, some late diagnosed forms in adults, with better prognosis, have been recently identified.
 ...
PMID:[Characteristics and specificities of cystic fibrosis in adults: evolutive disease of childhood or recently diagnosed disease?]. 1107 85

The gastrointestinal (GI) manifestations of cystic fibrosis (CF) are varied and include pancreatic insufficiency, meconium ileus, distal intestinal obstruction syndrome (DIOS), liver disease, and other less common manifestations. Treatment of pancreatic insufficiency consists of providing appropriate pancreatic enzyme replacement therapy and may include raising duodenal pH to allow for optimal action of these enzymes. Despite a number of pancreatic enzyme replacement products, malabsorption cannot be normalized. Management of DIOS depends on the severity of the symptoms; adequate hydration is very important. Polyethylene glycol solutions are being increasingly used. The precipitating cause of the episode of DIOS should be looked for so future episodes can be prevented. Liver disease is relatively silent and annual monitoring of liver function and status is recommended. Treatment is mainly supportive and the role of ursodeoxycholic acid in the prevention of cirrhosis needs to be better defined. Nutritional status is an important part of management of all GI and liver manifestations of CF. A team approach and the assistance of a registered dietitian are extremely valuable in managing the GI and liver manifestations of CF.
 ...
PMID:Treatment of Gastrointestinal Problems in Cystic Fibrosis. 1295 49

Sclerosing encapsulating peritonitis (SEP) has been reported in a wide variety of patients, including those who have undergone peritoneal dialysis (PD), young adolescent girls, cirrhotic patients after peritoneal-venous shunting (PVS), and patients treated with Beta-blockers. Nevertheless, the etiology of SEP remains obscure. In this article, we report on two patients with severe liver cirrhosis who were diagnosed as having SEP. The association of SEP with liver cirrhosis in patients who have not undergone PVS has previously been reported only rarely. Neither of our two patients had received PD or PVS, and neither had been treated with Beta-blockers, but both had suffered persistent intraabdominal infection. In one patient, we performed therapy combining total enterolysis with the oral administration of prednisolone, at 5 mg/day. The patient recovered and is currently free of symptoms at approximately 15 months after surgery. We believe that SEP may produce complications in cirrhotic patients with persistent intraabdominal infection, and that a combination therapy of surgical and immunosuppressive treatment may be effective for alleviating the small-intestinal obstruction due to SEP.
 ...
PMID:Sclerosing encapsulating peritonitis in two patients with liver cirrhosis. 1506 25


<< Previous 1 2 3 4 5 Next >>