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)

The different sensitivity of the male and the female liver is well established, but there is an obvious difference in male livers as well. One possible explanation for these differences might be the existence of genetic peculiarities among patients with alcoholic cirrhosis. In the early twentieth, Chvostek in Vienna was the first to draw attention to a constitutional element which he believed to be fundamental: Absent body hair, absent or extremely spare hair on the limbs, and pubic hair of the female type, i.e. with horizontal upper border (1) (Fig. 1). Chvostek laid special stress on the fact that these anomalies were of genetic origin and were not a secondary phenomenon do to alcoholism or cirrhosis. The feminine pattern of hair distribution, the so-called "Chvostek's habitus", is a frequently seen condition but the statistical proof of its association with alcoholic cirrhosis in man is still missing. The purpose of our study was to investigate if the feminine pattern of hair distribution in male patients with alcoholic cirrhosis is a genetic characteristic, this anomaly is more frequently encountered in the alcoholic type than in the post-hepatitis type of cirrhosis, the reported discrepancies of HLA frequencies are due to genetic differences.
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PMID:Constitutional factors in alcoholic cirrhosis. 653 37

We carried out a study on 63 patients suffering from alcoholism in order to determine the frequency of 27 HLA antigens. In comparison to healthy blood donors no significant deviation of HLA distributions in alcoholics was found. The data on alcoholic patients with physical consequences such as cerebral seizures, liver cirrhosis and polyneuropathy failed to identify an association with HLA.
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PMID:Genetic markers in alcoholism: no association with HLA. 657 88

A further case of sporadic congenital sideroblastic anaemia is reported. Despite no contributing factors such as blood transfusion, oral ingestion of iron or alcoholic beverages, were present excessive iron stores occurred with consecutive tissue damage resulting in cirrhosis of the liver, portal hypertension and diabetes mellitus. HLA phenotype was A3 B7 as in primary hemochromatosis. Correction of anemia was obtained by vitamin B6 administration. Improvement of iron overload was achieved through the use of daily subcutaneous infusions of the iron chelating drug desferrioxamine with a portable infusion pump.
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PMID:[Hemochromatotic cirrhosis complicating pyridoxine-sensitive hereditary sideroblastic anemia. Case report]. 661 12

The frequency of HLA-B40 was significantly increased in 30 patients with acute alcoholic hepatitis with cirrhosis (63%) and in 60 patients with alcoholic cirrhosis with or without acute alcoholic hepatitis (48%) compared with its frequency in 234 healthy blood donors (18%). The HLA-B40 frequency was not increased in 20 patients with acute alcoholic hepatitis without cirrhosis (0%), in 41 patients with fatty liver infiltration (12%), or in 67 alcoholics with moderate biochemical abnormalities (19%). The association between HLA-B40 and alcoholic liver cirrhosis and acute alcoholic hepatitis with cirrhosis favors the idea that these disorders might be genetically determined. There was, however, no difference in the distribution of the HLA antigens in 54 patients with different degrees of alcoholic liver disease and an elevated carcinoembryonic antigen (CEA) value of greater than or equal to 5.0 micrograms/l compared with 61 alcoholics with different degrees of liver disease and a normal CEA value. Thus, the results of HLA-A and -B typing gave no evidence of genetic susceptibility to develop a CEA elevation in patients with alcoholic liver disease.
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PMID:Association between HLA-B40 and acute alcoholic hepatitis with cirrhosis and the lack of relation between carcinoembryonic antigen and HLA antigens in alcoholic liver disease. 667 57

The excessive storage of iron in idiopathic haemochromatosis leads to severe organic lesion up to life-threatening conditions (cardiac insufficiency, portal decompensation). The symptoms melanodermia , diabetes mellitus and other endocrine failures, liver cirrhosis, cardiac insufficiency and arthropathy appear together or in various combinations. The diagnosis is ascertained by the proof of iron storage, the multiple organic affection and by familial accumulation of the various laboratory diagnostic possibilities are particularly to be emphasized the serum iron value together with the percetal transferrin saturation (as search test), serum ferritin, the desferrioxamine test, simple ferrokinetic investigations and the quantitative determination of iron in the liver in the bioptate . For family examinations, apart from the search test, a HLA typisation is reasonable, in order to estimate the risk of the disease (particularly of brothers and sisters). The therapy of choice are blood- lettings (0.5 l once to twice a week) up to obtaining a permanent easy iron deficiency anaemia. The maintenance therapy should be performed with monthly to quarterly blood- lettings . Only in cases exception a desferal treatment is indicated. Endocrine failures and cardiac disturbances need a particular therapy.
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PMID:[Idiopathic hemochromatosis--diagnosis and therapy]. 673 May 91

The reliability of serum iron, transferrin saturation, and serum ferritin in the detection of early iron overload in hemochromatosis was determined in 120 young (less than 35 yr old) relatives whose genetic susceptibility for the disease was determined by HLA typing of families. Serum ferritin and transferrin saturation demonstrated high levels of sensitivity and specificity, whereas serum iron concentration was an unreliable test in the detection of hemochromatosis. In hemochromatosis homozygotes there was an excellent correlation between serum ferritin and mobilized body iron (r = 0.92), 1 microgram/L of serum ferritin corresponding to approximately 7.5 mg of body iron stores. For a given age, serum ferritin values were higher in homozygotes compared with heterozygotes or homozygous-normal subjects and increased by approximately 65 micrograms/L X yr, reflecting the progressive accumulation of iron in hemochromatosis homozygotes. All hemochromatosis subjects with either hepatic fibrosis or cirrhosis had serum ferritin concentrations greater than 700 micrograms/L. We conclude that the combination of serum ferritin and transferrin saturation is a reliable screening regimen for the detection of hemochromatosis and for predicting the level of body iron stores in young hemochromatosis subjects.
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PMID:Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests. 674 16

The prevalences of 10 HLA-A and 16 HLA-B antigens were determined in 50 patients with alcoholic cirrhosis and 120 alcoholic patients without cirrhosis and compared with those in a control group of 550 healthy subjects from the same geographical area. B40 was absent in the patients with cirrhosis but was found in 18 (15%) of the patients without cirrhosis (p = 0.0087). No other association was noted. It is concluded that there is no good evidence to date of an association between HLA antigen state and susceptibility to alcohol-induced cirrhosis.
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PMID:Are HLA antigens important in the development of alcohol-induced liver disease? 680 59

Immune responsiveness of 121 patients with post-schistosomal liver cirrhosis to schistosomal antigens was investigated. Out of 78 patients, only five (6.4%) showed low responsiveness to schistosomal adult worm antigen whereas 73 (93.6%) were high responders. Out of 57 healthy individuals with previous schistosomal infection, low responders were found in 17.5%. The frequency of low responders to schistosomal adult worm antigen was significantly decreased in the patients with post-schistosomal liver cirrhosis (P less than 0.05). Out of 121 patients, a significant increase in frequency of HLA-Bw44-DEn haplotype was observed (corrected P less than 0.02). On the other hand, HLA-Bw52-Dw12 haplotype which was reported to be in strong linkage disequilibrium with an immune suppression gene for schistosomal adult worm antigen was significantly decreased (corrected P less than 0.005). These observations suggested that an HLA-linked immune suppression gene controlled susceptibility or resistance to post-schistosomal liver cirrhosis through regulation of immune responsiveness of the hosts to schistosomal antigen in man.
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PMID:Immunogenetic analysis of patients with post-schistosomal liver cirrhosis in man. 681 94

Titres and immunoglobulin classes of autoantibodies were examined in 69 male patients with alcoholic liver cirrhosis and the findings were related to particular human leucocyte antigens and serum concentration of testosterone. Both anti-nuclear antibodies (ANA) and smooth muscle antibodies (SMA) were significantly more prevalent in patients with cirrhosis than in sex- and age-matched controls. Antimitochondrial antibodies and liver cell membrane antibody were found in 4% of the patients, and in none of the controls, but this difference was not significant. Patients with HLA-B8 and/or HLA-B12 had higher titres of ANA (n.s.) and SMA (P less than 0.05) than patients without these HLA antigens. Serum concentrations of testosterone were significantly lower in ANA-positive patients than in those negative (P less than 0.05), and a similar tendency was found in SMA-positive patients. With increasing titres of ANA the concentration of testosterone fell. Serum concentration of testosterone correlated inversely (P less than 0.05) with plasma immunoglobulin G and A. It is concluded that both genetic and hormonal factors may influence the humoral immune response in these patients.
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PMID:Autoantibodies, histocompatibility antigens and testosterone in males with alcoholic liver cirrhosis. 697 33

HLA-A, B and DR antigens were determined in 33 patients suffering from confirmed alcoholic hepatitis, with or without cirrhosis. Past alcohol consumption and plasma immunoglobulins were also determined in 21 cases. An increased frequency of the DR-3 antigen was found in patients as compared with the control group (a sample of the Geneva population (31% v. 11%, p less than 0.05)). Although past alcohol consumption tended to be less in DR-3 positive patients in comparison with the other patients, the difference was not significant. No other differentiating clinical, immunological or histological features were observed among DR-3 positive patients. Our findings that there appears to be an increased frequency of DR-3 antigens in patients with alcoholic hepatitis, together with the previous work showing an increased frequency of HLA-B8 in the same condition, is particularly interesting in the light of the known association of both these antigens with autoimmune disease. These results would suggest that liver damage in chronic alcoholism is genetically predisposed, and that autoimmune mechanisms could be involved in the pathogenesis of alcoholic liver disease.
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PMID:Increased frequency of DR3 antigen in alcoholic hepatitis and cirrhosis. 698 85


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