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

A 16-year-old girl is described with abetalipoproteinaemia who underwent liver transplantation for hepatic cirrhosis. After this procedure her serum lipoprotein profile was corrected; however, fat malabsorption and steatorrhea persisted because the primary defect, a mutant microsomal triglyceride-transfer protein, remains expressed in the intestine.
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PMID:Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation. 968 20

The clinical histories of 46 adult patients (24 men and 22 women, mean age 20.6 +/- 5.1 years) diagnosed of cystic fibrosis were reviewed evaluating the digestive alterations. The age at diagnosis of cystic fibrosis was 5.63 +/- 5.3 years (range: newborns-19 years). The initial diagnosis was established by ileus meconium, in four, lung disease in 15, steatorrhea in 12, lung disease and steatorrhea in 13 and following the diagnosis of cystic fibrosis in siblings in two. Four patients presented ileus meconium, nine occlusive syndrome of the distal intestine, 42 steatorrhea (20 severe, 12 moderate and 10 mild), with the severity of the steatorrhea not being associated with the severity of the respiratory insufficiency. Two patients presents rectal prolapse, five gastroesophageal reflux syndrome (four with hiatal hernia), six cholelithiasis, one recurrent pancreatitis without detection of biliary lithiasis, one neonatal cholestasis and 10 malnutrition (five severe and five moderate) fundamentally in relation to the severity of the lung disease and, to a lesser degree, liver disease. In 10 patients chronic liver disease was diagnosed corresponding to established cirrhosis in seven, indicating liver transplantation in two. In most cases, the liver disease was already manifest in adolescence even in the cirrhotic stage. Cholangiography by magnetic resonance was useful in the study of liver disease showing abnormalities which imitated primary sclerosing cholangitis. Treatment with ursodesoxicholic acid at a dosis of 20 mg/kg/day led to a significant decrease in the transaminase values and overall of gammaglutamyltranspeptidase but did not avoid complications in the cirrhotic stages. Genetic studies performed in 36 patients detected the delta F508 mutation in 69.4%, being found in almost all of the patients with ileus meconium, occlusive syndrome of the distal intestine, liver disease, cholelithiasis and malnutrition.
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PMID:[Digestive alterations in cystic fibrosis. Retrospective study of a series of 46 adult patients]. 1019 90

The salivary glands are structurally similar to the exocrine pancreas and may be involved in the course of diseases of autoimmune origin (sclerosing cholangitis, ulcerative rectocolitis, primary biliary cirrhosis). For a not-yet-quantified proportion of chronic pancreatitis (CP) cases, a possible autoimmune pathogenesis has been postulated. The aim of the study was to assess the frequency of salivary ductal system abnormalities in patients with CP. Fifty-one patients with CP consecutively admitted to our center were studied (44 men, seven women; mean age, 48.2 +/- 10.8 years). The mean duration of disease was 11.7 years (range, 1-37 years); 44 (86%) of 51 patients had pancreatic calcifications, 25 (49%) of 51 diabetes, 25 (52%) of 48 steatorrhea, and 32 (63%) of 51 underwent pancreatic surgery. As a control group, we studied 10 patients of whom four with liver cirrhosis (three alcoholic and one posthepatitis; three men, one woman; mean age, 57 +/- 12.5 years), and six with temporomandibular pain (five men and one woman; mean age, 42 +/- 10.3 years). The patients were given parotid sialography, the findings being read by two independent observers. In two CP patients, parotid sialography was unsuccessful. Fifteen (31 %) of 49 patients and none of the 10 control patients exhibited abnormalities of the glandular ducts compatible with chronic inflammation of the salivary ducts (p = 0.039). None of the CP patients had salivary intraductal calcifications. Findings of parotid ductal abnormalities are frequent in the course of CP and may indicate a common pathogenetic mechanism, even of an immune type.
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PMID:Salivary gland involvement in patients with chronic pancreatitis. 1041 89

Most of the care of liver disease in alpha(1)-antitrypsin (alpha(1)-AT) deficiency involves supportive management for complications of chronic liver disease including gastrointestinal bleeding, ascites, edema, encephalopathy, coagulation disturbances, spontaneous bacterial peritonitis, and hepatorenal syndrome. Some of these patients will have manifestations of cholestatic injury, including pruritus, hypercholesterolemia, and steatorrhea with fat-soluble vitamin deficiencies. The major challenge for the clinician taking care of these patients is the timing of referral for liver transplantation therapy. Timing of such referral is a relatively straightforward decision in alpha(1)-AT-deficient patients with progressive liver dysfunction. Some patients have nonprogressive or slowly progressing liver disease even after the development of cirrhosis or portal hypertension. Timing of liver transplantation in these patients should not be based simply on the presence of cirrhosis, portal hypertension or mild liver synthetic dysfunction, but rather on the basis of a subjective judgment by the hepatologist, patient, and family that manifestations of liver disease are interfering with overall life functioning.
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PMID:Alpha(1)-Antitrypsin Deficiency. 1109 5

The malnutrition caused by liver cirrhosis (LC) often worsens the course of the disease. Patients affected by LC often have a low bioavailability of the anabolic liver peptide insulin-like growth factor (IGF)-I. The present study was undertaken to investigate the effect of low doses of IGF-I on the nutritional status and in vivo jejunal transport of D-galactose in anatomically, pathologically and biochemically confirmed moderate, non-ascitic, cirrhotic rats. LC was experimentally induced in growing rats by inhalation of CCl4 and addition of phenobarbital to drinking water. Both the nutritional status, as evaluated by N balance, and in vivo intestinal transport of D-galactose, were significantly impaired in cirrhotic rats. As compared with healthy rats, administration of 20 microg human recombinant IGF-I/kg body weight for 14 d to cirrhotic rats significantly improved N balance variables and restored in vivo intestinal transport of the sugar. However, IGF-I had no effect on the steatorrhoea associated with LC. These results suggest that low doses of IGF-I may have beneficial effects on the malnutrition associated with moderate LC.
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PMID:Effect of insulin-like growth factor-I on nitrogen balance and intestinal galactose transport in rats with moderate liver cirrhosis. 1466 86

The most common biliary problem in patients with inflammatory bowel disease is primary sclerosing cholangitis (PSC). The treatment of this disease is multifaceted and frequently requires a multidisciplinary approach involving internists, nutritionists, gastroenterologists, and surgeons. Unfortunately, other than liver transplantation, no therapy that is currently available has been proven to alter the natural history of PSC or prolong survival. Ursodeoxycholic acid is currently the most promising pharmacologic treatment option for slowing disease progression and should be used in higher than usual doses (20 to 30 mg/kg/d). Treatment of symptoms due to cholestasis, such as pruritis and steatorrhea, is an important aspect of the medical care of patients with PSC. Our preferred treatment of pruritis due to cholestasis is with bile acid binding exchange resins such as cholestyramine or colestipol (which is generally better tolerated than cholestyramine). Endoscopic therapy should be reserved for patients with obstructive jaundice, cholangitis, or symptomatic dominant biliary strictures. We recommend dilation of dominant strictures with graduated or balloon dilators followed by temporary stenting if the postdilation cholangiographic appearance is not improved or adequate biliary drainage cannot be assured. There is indirect evidence that the combination of ursodeoxycholic acid and endoscopic therapy to maintain biliary patency may improve transplant-free survival in patients with PSC, although this remains to be proven. Liver transplantation remains the only effective treatment of advanced PSC, and should be considered in patients with complications of cirrhosis or intractable pruritis or fatigue.
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PMID:Treatment of Biliary Problems in Inflammatory Bowel Disease. 1576 33

A 5-year-old Chinese girl with 1-year history of progressive jaundice, steatorrhoea and pruritus was referred. Physical examination showed failure to thrive, marked jaundice, finger clubbing and hepatomegaly. There was laboratory evidence of cholestatic jaundice and autoimmunity, with marked elevation of alkaline phosphatase (ALP) and gamma-glutamyl transferase (gammaGT). Histology of percutaneous liver biopsy revealed hepatitis around the portal triad, as well as features of liver cirrhosis. Primary sclerosing cholangitis (PSC) overlapping with autoimmune hepatitis (AIH) was suspected. Endoscopic retrograde cholangiopancreatography (ERCP) was not feasible as there was no weight-appropriate ERCP scope available. Magnetic resonance cholangiopancreatography (MRCP) was performed and revealed areas of irregularity and slight attenuation of the right and left hepatic ducts, representing stricturing, in keeping with PSC. PSC/AIH overlap syndrome was diagnosed in this child in which MRCP has contributed to its diagnosis.
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PMID:Autoimmune hepatitis/primary sclerosing cholangitis overlap syndrome in a child: diagnostic usefulness of magnetic resonance cholangiopancreatography. 1581 80

The absorption of a magnesium chloride solution has been observed by balance studies in three patients with ileal resections and in one patient with idiopathic steatorrhoea and biliary cirrhosis. All patients were depleted of magnesium because of malabsorption. The mean net absorption of magnesium increased to 4.5, 4.9, 5.8 and 16.4 mmol magnesium per day, when a supply of 25 mmol magnesium was given. The result was encouraging with positive magnesium balances in all patients.
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PMID:Absorption of magnesium chloride solution in small bowel disease. 1682 99

ABCB4 (MDR3), a lipid translocator, moves phosphatidylcholine from the inner to the outer leaflet of the canalicular membrane. Genetic mutations of ABCB4 lead to three distinct but related hepatobiliary diseases. Progressive familial intrahepatic cholestasis (PFIC) type 3 is a chronic cholestatic syndrome characterized by a markedly elevated gamma-glutamyltranspeptidase. Patients present with jaundice, pruritus, and hepatosplenomegaly. Periportal inflammation progresses to biliary cirrhosis and causes portal hypertension. Ursodeoxycholic acid (UDCA) normalizes liver function tests in approximately one half of treated PFIC type 3 patients. Partial responders or nonresponders eventually will require liver transplantation. Gallstone patients with ABCB4 mutations may have low phospholipid-associated cholelithiasis syndrome, characterized by cholesterol gallstones and intrahepatic microlithiasis, along with recurrent biliary symptoms, despite cholecystectomy. Patients with ABCB4 mutations also may develop intrahepatic brown pigment stones. UDCA may improve biliary symptoms even before the dissolution of stones occurs. Additional therapies such as farnesoid X receptor ligands/agonists and benzfibrates show future therapeutic promise. Intrahepatic cholestasis of pregnancy affects pregnant women with abnormal ABCB4. These women suffer from disabling pruritus and also may experience steatorrhea. Fetuses are at high risk for prematurity and stillbirths. The definitive treatment is delivery of the baby. In the interim, limited fat intake, fat-soluble vitamin supplementation, and UDCA with or without S-adenosylmethionine can provide symptomatic relief. Additional hepatobiliary diseases related to ABCB4 mutations are likely to be identified. This may result in the discovery of additional therapies for PFIC type 3, gallstones, and intrahepatic cholestasis of pregnancy.
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PMID:The Multiple Facets of ABCB4 (MDR3) Deficiency. 1822 10

Homozygous familial hypobetalipoproteinaemia (Ho-FHBL) is a rare co-dominant disorder characterized by extremely low levels of low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (apoB). Most patients with Ho-FHBL have mutations in APOB gene resulting in truncated apoBs. Some patients are asymptomatic, while others have fatty liver, intestinal fat malabsorption and neurological dysfunctions. We investigated three adult subjects with severe hypobetalipoproteinaemia and a family history of FHBL. Proband FHBL-47 had liver cirrhosis with hepatocarcinoma and a renal carcinoma but no clinical manifestations related to FHBL. He was a compound heterozygote for a 7-bp deletion in exon 21 and a base insertion in exon 26 resulting in truncated apoBs (apoB-22.46/apoB-66.51). Proband FHBL-53, with severe hepatic steatosis and fibrosis, had a nonsense mutation in exon 19 resulting in a truncated apoB (apoB-20.61) and a rare nucleotide substitution in intron 14 (c.2068-4T>A). The latter was also present in her daughter, found to have low plasma LDL-C and apoB. Proband FHBL-82 had chronic diarrhoea and steatorrhoea. She was found to be homozygous for a nonsense mutation in exon 24 resulting in a truncated apoB (apoB-26.65). In adult subjects, the presence of chronic liver disease and chronic diarrhoea, when associated with severe hypobetalipoproteinaemia, may lead to the diagnosis of Ho-FHBL.
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PMID:Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations. 1849 86


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