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)

Alpha 1-antitrypsin (alpha 1 AT) is a glycoprotein of hepatic origin which functions as a systemic protease inhibitor (Pi). Its production is controlled by two autosomal-codominantly transmitted alleles. Among the numerous genetic variants some alleles (predominantly PiZ) may induce alpha 1 AT-deficiency, facultatively associated with childhood liver disease. However, the pathogenesis of this congenital disorder, which may progress to complete cirrhosis remains obscure at present. In addition, no clear cut relationship has been proven between alpha 1 AT-deficiency and deranged liver architecture, observed in advanced aged adults. Possibly this may reflect a more accidental coincidence with the consequences of chronic viral hepatitis (Non A-Non B-type). Nevertheless, this hypothesis is hitherto unestablished as it holds for the supposed association between alpha 1 AT-deficiency and the occurrence of malignant hepatoma.
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PMID:[Alpha 1-antitrypsin deficiency and the liver (author's transl)]. 628 50

Cholesterol ester storage disease (CESD) is a rare congenital disorder of lipid metabolism, with mutation of the lysosomal acid lipase gene, causing chronic liver disease, usually before adolescence. We here describe three adult siblings with CESD diagnosed by light microscopic demonstration of excessive lysosomal storage of lipids with accumulation of foamy cells in liver biopsies and by a decrease in acid lipase activity (2-3% of controls). One patient (male, 46a) had extensive liver fibrosis, another (female, 58a) had cirrhosis of the liver. The third patient had died from variceal haemorrhage (female, 56a). Using sequence analysis of RT-PCR products of LAL mRNA, the patients were identified as compound heterozygotes for a G-->A substitution at position -1 of the exon 8 splice donor site and a point mutation at the second allele, resulting in a His108-->Pro shift. In two patients, therapy with lovastatin was initiated, which led to normalisation of serum cholesterol and triglyceride levels. After 12 months, liver biopsy demonstrated a significant decrease in vacuolisation of hepatocytes, with fewer and smaller droplets. Semi-automated computer-assisted image analysis of electron microscopic sections demonstrated a decrease in the hepatocellular lysosomal area from 20.5+/-7.1% to 11.7+/-6.5% (p<0.05) and 41.7+/-5.1% to 33.4+/-4.4% (p<0.01). We conclude that in two siblings with a novel LAL variant and mild phenotype of CESD, lovastatin decreased both serum lipid concentrations and hepatocellular lysosomal content.
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PMID:A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin. 936 51

The N-glycans present on the total mixture of serum glycoproteins (serum N-glycome) were analyzed in 24 subjects with congenital disorder of glycosylation type I (CDG-I) and 7 healthy, age-matched individuals. No new N-glycan structures were observed in the sera of CDG-I patients as compared with normal sera. However, we observed in all subtypes a significantly increased degree of core alpha-1,6-fucosylation of the biantennary glycans as compared to normal, as well as a significant decrease in the amount of triantennary glycans. These serum N-glycome changes appear to be a milder manifestation of some of the changes observed in adult liver cirrhosis patients, which is compatible with the reported steatosis and fibrosis in CDG-I patients. In the CDG-Ia subgroup, the extent of the serum N-glycome changes correlates with the aberration of the serum transferrin isoelectric focusing pattern, which measures the severity of the lack of entire N-glycan chains (primary consequence of CDG-I) in the liver and is the standard diagnostic test for this category of inherited diseases.
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PMID:Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I. 1262 89

We describe a case of congenital disorder of glycosylation with chronic diarrhea, progressive liver cirrhosis, and recurrent infections. Transferrin analysis showed only hyposialylation, but analysis of total serum N-glycans indicated loss of additional sugars, arguing that the latter generates a more informative picture to search for the primary defect.
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PMID:Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx. 1635 20

Situs inversus (SI) is a rare congenital disorder with a complete mirror image of thoracic and abdominal organs. In adults with SI and decompensated cirrhosis experience with liver transplantation is limited. Orthotopic liver transplantation (OLT) in an adult with cirrhosis using a technique where the recipient liver was placed using a 90-degree rotation of the graft was previously reported by Klintmalm et al, however no other reports using this technique have been described. We report a case of a 41 year-old man with situs inversus and decompensated cirrhosis who successfully underwent OLT using this technique. The donor liver was rotated 90-degrees towards the left and easily fitted into the recipients'fossa with the left lobe pointing toward the left lower quadrant. The patient had an uneventful recovery and has been followed for 21 months without any complications. This technique has the advantage of preventing compromise of the size of the donor liver, permits an easy reconstruction of vascular and biliary tree and in this case was associated with an excellent outcome.
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PMID:Orthotopic liver transplantation in an adult with situs inversus: an easy way to fit the liver. 1653 68

Caroli's disease is a rare congenital disorder and occasional cases have been reported from Japan and other parts of Asia. It comprises of congenital dilation of the lower (segmental) intrahepatic bile duct. Cholangitis liver, cirrhosis and cholangiocarcinoma are its potential complication. A case of caroli's disease in an 8-years-old boy with bilobar involvement of liver, (specially affecting right superior lobe) presenting with intermittent abdominal pain, fever and hepatosplenomegaly is reported here.
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PMID:Caroli's disease. 1656 20

Caroli's disease (CD) is a very rare congenital disorder that is characterized by non-obstructive, segmental and cystic dilatation of intrahepatic ducts. Most patients with CD are asymptomatic, but some patients may suffer from hepatic fibrosis, liver cirrhosis or/and portal hypertension. In complex CD, cystic dilatations of the intrahepatic bile ducts can be present with congenital hepatic fibrosis, liver cirrhosis, portal hypertension, oesophageal varices and autosomal recessive polycystic kidney disease; a condition known as Caroli's syndrome. This report describes the case of a 28-year-old woman that had gastro-oesophageal varices that were caused by hepatic fibrosis and portal hypertension as part of Caroli's syndrome. The patient underwent successful treatment with endoscopic injection sclerotherapy with lauromacrogol and endoscopic variceal obturation using tissue adhesive. There were no immediate complications and the patient remained free of complications at 1-year follow-up. There are no current reports in the published literature describing Caroli's syndrome induced by gastro-oesophageal varices that were treated by a combination of endoscopic injection sclerotherapy and endoscopic variceal obturation. Endoscopic therapy was an effective technique for the treatment of gastro-oesophageal varices in a patient with Caroli's syndrome awaiting a liver transplant.
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PMID:Endoscopic therapy for gastro-oesophageal varices of Caroli's syndrome: a case report. 3159 47