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)

We describe a boy of consanguineous parents who suffered from intractable diarrhoea due to congenital microvillous atrophy, a recessively inherited autosomal disorder. He developed severe cholestatis starting at 2 weeks of age and leading to liver cirrhosis. His psychomotor development appeared only slightly delayed. At the age of 7 months he died due to septicaemia. In addition to disturbances of electrolyte balance and renal tubular function, which could be attributed to microvillous atrophy, marked elevations of dihydrouracil and dihydrothymine as well as moderately elevated excretion of uracil and thymine in urine were repeatedly demonstrated, suggesting a disorder of pyrimidine degradation. An enzymatic defect of 5,6-dihydropyrimidine amidohydrolase (EC 3.5.2.2, dihydropyrimidinase, DHP) was demonstrated in liver biopsy. As both of these recessive disorders seem to be extremely rare, it remains speculative, whether he suffered from two independently inherited metabolic diseases or whether this represents a hitherto undescribed contiguous gene syndrome.
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PMID:Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? 932 63

A 42-year-old white man with morbid obesity and hypertriglyceridemia was noted to have nonalcoholic steatohepatitis (NASH) at the time of a laparoscopic cholecystectomy for presumed gallstone pancreatitis. His postoperative course was complicated by a 50-kg weight loss and continued right upper quadrant pain. Repeat liver biopsy revealed NASH with accompanying micronodular cirrhosis. Due to progressive fatigue, he underwent an orthotopic liver transplantation complicated by a 36-kg weight gain. Sixteen months posttransplantation, a liver biopsy revealed the recurrence of NASH. Screening for defects in fatty acid oxidation proved negative.
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PMID:Recurrence of nonalcoholic steatohepatitis in a liver transplant recipient. 940 78

A middle-aged white man of Scotch-Irish ancestry, being treated for chronic hepatitis C, was found to be heterozygous for alpha1-antitrypsin deficiency (PiMZ phenotype) after diagnostic PAS-positive, diastase-resistant globules were detected in a liver biopsy. The globules had not been present in a biopsy obtained 4 yr previously. He was also found to be heterozygous for the cys282tyr mutation of the HFE gene, which is the chief cause of HLA-linked hereditary hemochromatosis (HHC). His liver disease progressed over 4 yr from mild hepatitis to moderate hepatitis with cirrhosis despite therapy with interferon-alpha, and phlebotomy plus interferon. These conditions appeared to have synergistic effects, with the chronic viral hepatitis unmasking the alpha1AT deficiency, and the alpha1AT deficiency (and possibly the heterozygosity for HHC), exacerbating the course of the hepatitis C.
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PMID:Enhanced phenotypic expression of alpha-1-antitrypsin deficiency in an MZ heterozygote with chronic hepatitis C. 973 41

A 55 year-old man was admitted with massive ascites. Although the laboratory data on admission were compatible with hepatic cirrhosis and remarkable esophageal varices were observed during endoscopy, the imaging findings such as computed tomography and ultrasonographic examination did not confirm hepatic cirrhosis. The patient had no history of alcohol abuse, blood transfusions or acute hepatitis. Serological markers related to viral and autoimmune hepatitis were all negative. Seven years ago, the patient had undergone an operation for colon cancer and has been taking tegafur since then for a total of 55 months. Tegafur was suspected as the causative agent for the liver dysfunction of this patient and the administration of tegafur was stopped. His laboratory data improved gradually and the ascites vanished. The first liver biopsy performed 6 months after discontinuation of tegafur still revealed chronic active hepatitis. However, at the liver biopsy performed 18 months after withdrawal of tegafur, inflammatory activity had subsided and the third liver biopsy, performed 34 months thereafter, revealed further improvement of the pathological changes that had occurred in the liver. We therefore conclude that the administration of tegafur may have caused chronic active liver injury with portal hypertension manifested as ascites and esophageal varices.
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PMID:Chronic liver failure induced by long-term administration of tegafur: a case report. 995 26

We report a child with an isolated complex III respiratory chain deficiency and global developmental delay who had severe pruritus with elevated plasma bile acid levels. A liver biopsy showed micronodular cirrhosis, and enzymologic evaluation demonstrated an isolated complex III deficiency in both liver and muscle. His pruritus improved and serum bile acid levels decreased after treatment with menadione and vitamin C.
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PMID:Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature. 1006 75

Hepatitis B virus is a major cause of human liver disease. In the case of chronic infection the virus can lead to liver cancer and cirrhosis. The virion consists of an outer envelope containing lipids of the endoplasmic reticulum and virally-encoded surface proteins. This lipoprotein shell encloses the nucleocapsid or core antigen (HBcAg), which contains the viral genome. The capsid consists of dimers of a 183-residue protein, which can be divided into an assembly (residues 1-149) and a protamin-like domain (residues 150-183), responsible for polymerization into particles and RNA packaging, respectively. Upon expression of the core gene in bacteria the products are assembled into capsids resembling those of wild type particles. A purification protocol was developed for unpolymerised (dimeric) and polymerized HBcAg by fusion of six histidine residues to a C-terminal deletion mutant of the core protein allowing the isolation of the respective antigens after denaturing Ni2+-chelate affinity chromatography and renaturing dialysis. The possible incorporation of E. coli proteins during the assembly process and the inclusion of nucleic acids can be avoided. The method might be an attractive alternative to common purification protocols of hybrid virus-like particles (VLPs) for vaccine use.
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PMID:Purification of E. coli-expressed HIS-tagged hepatitis B core antigen by Ni2+ -chelate affinity chromatography. 1009 42

Vibrio parahemolyticus (V. parahemolyticus) is a halophilic gram-negative bacillus that lives in the ocean. It is the leading cause of infectious diarrhea in Taiwan and sometimes produces soft tissue infections, but it is rarely a cause of bacteremia. There have been only 11 cases reported in the literature. Most of the cases involved a history of ingestion of seafood or exposure to seawater. In addition, those patients were all immunosuppressed, especially with leukemia and cirrhosis. We report a 60-year-old male patient with chronic hepatitis C and adrenal insufficiency. He developed V. parahemolyticus bacteremia following ingestion of seafood one week prior to admission. His condition was complicated with neck and right lower leg soft tissue infection, as well as multiple organ failure. The patient survived after intravenous ceftazidime, oral doxycycline, and surgical debridement. To our knowledge, this is the 12th reported cases on Medline, and the second bacteremic case in Taiwan. After reviewing the literature, we suggest that all patients with immunosuppressed conditions or adrenal insufficiency should eat foods that are well cooked and avoid raw seafood. Moreover, when patients who are at risk to develop fever, diarrhea, and soft tissue infection after ingestion of seafood, V. parahemolyticus infection should be suspected. All culture specimens should be inoculated on Vibrios selective media.
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PMID:Vibrio parahemolyticus bacteremia: case report. 1058 27

Hereditary haemochromatosis (HHC) is a common inherited disorder of iron metabolism characterised by progressive iron loading of parenchymal cells of the liver, pancreas, heart and other organs ultimately leading to cirrhosis and organ failure. Despite HLA studies which localised the defective gene to the short arm of chromosome 6, the haemochromatosis gene remained elusive until 1996, when the gene was identified by a massive positional cloning effort. The haemochromatosis gene (HFE) encodes a novel nonclassical MHC class-1-like molecule. Two missense mutations have been identified in patients with HHC, a G to A at nucleotide 845, resulting in a substitution of tyrosine for cysteine at amino acid 282 (referred to as the C282Y mutation) and a C to G at nucleotide 187, resulting in a substitution of aspartate for histidine at amino acid 63 (H63D). An average of 85-90% of patients with typical clinical features of HHC are homozygous for the C282Y mutation. H63D is not associated with the same degree of iron loading as C282Y. Clinical expression is variable depending on environmental (dietary) iron, physiological and pathological blood loss and as yet unidentified modifying genetic factors. One recent Australian study indicates that only about 50% of homozygous subjects are fully expressing and symptomatic and that about 30% show no clinical or biochemical expression. Genetic tests for identifying mutations in the HFE gene provide precise means for diagnosis, family testing and population screening and have led to re-evaluation of the indications for liver biopsy in this disease. At the present time, however, the most practical and cost-effective method of screening is for phenotypic expression by transferrin saturation or unsaturated iron binding capacity measurement. In the future, population screening by genotype should be feasible once the relevant technical, legal and ethical issues are resolved.
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PMID:Haemochromatosis in the new millennium. 1072 94

Orthotopic liver transplantation (OLT) has been applied to patients with Wilson's disease (WD) for correction of irreversible liver cirrhosis. However, the neurological outcome and the correlation between clinical manifestations and neuroimage findings after OLT remain uncertain. We present a WD patient who showed an improvement in both liver functions and neurological manifestations after OLT. Serum levels of ceruloplasmin and copper returned to normal rapidly after the operation. His ataxic gait was improved 5 months later and dysmetria and tremor disappeared 11 months later. The high signal intensities on T2-weighted brain magnetic resonance images regressed at bilateral thalami 5 months later and disappeared in bilateral thalami and red nuclei 16 months after OLT. We conclude that the neurological improvement could be expected in WD patients after OLT. The improvement was correlated with the MRI changes in red nuclei and bilateral thalami.
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PMID:Correlation of neurological manifestations and MR images in a patient with Wilson's disease after liver transplantation. 1094 33

Progressive myelopathy is a rare complication of chronic hepatic disease which has never been reported in the paediatric age group. We describe the 11 year course of an adolescent male with hepatic myelopathy caused by cryptogenic micronodular cirrhosis. His condition has been associated with persistent polycythaemia and extraordinary increases of whole blood manganese, with magnetic resonance imaging evidence of manganese deposition within the basal ganglia and other regions of the brain. The patient has developed neither liver failure nor parkinsonism. The pathophysiological bases of this multiorgan system disorder are described.
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PMID:Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis. 1104 Jan 56


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