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 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

During the past decade, 258 patients received 293 renal transplants at Hennepin County Medical Center Minneapolis, Minnesota. Twenty-three of these patients had a pretransplant liver biopsy. Thirty-six patients had liver biopsies done during the post-transplant period. Liver tissue at autopsy was available from 24 patients who died after receiving a kidney transplant. Systematic analysis of the biopsy and autopsy specimens with appropriate tissue stains showed significant iron deposition (3+ to 4+) within the hepatic parenchymal cells in 1 of the 23 (4%) pretransplant biopsies and 17 of the 60 (28%) post-transplant specimens (P = 0.02). Eight of the 17 (47%) patients with post-transplant hemosiderosis also exhibited histological features of liver cirrhosis. As hemosiderosis is reversible with intermittent phlebotomies, early recognition and adequate management are highly desirable. We suggest that the serum ferritin level, which is a reliable index of body iron stores, should be monitored in all patients at periodic intervals following renal transplantation.
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PMID:Hemosiderosis: an unrecognized complication in renal allograft recipients. 703 65

In a prospective trial with 120 chronic alcoholics (July, 1978 to January, 1980) on admission the following haematological values significantly different from those of the normal population were found: elevated erythrocyte mean corpuscular volume (64%), increased mean corpuscular hemoglobin (32%), thrombocytopenia (48%), increased percentage of bone marrow sideroblasts (35%), decreased percentage of sideroblasts (37%), megaloblastic bone marrow changes (55%) including nuclear abnormalities (32%), and vacuolization in red cell (20%) and white cell (16%) precursors. These changes were independent of liver cirrhosis with hypersplenism (increased mean corpuscular volume in 52% of the patients who did not have liver cirrhosis, increased mean corpuscular volume in 76% of the patients who were cirrhotic but not suffering from major bleeding). Platelets returned to normal values within 6 days of discontinuation of alcohol ingestion. In respect to iron metabolism we found the following changes: decreased serum iron concentration (32%), increased iron concentration (42%), increased total iron binding capacity (54%), increased ferritin (41%), decreased transferrin (20%). In contrast to data from the Anglo-American literature, serum folate concentrations were mostly normal in our patients (87%). This may be due to different eating and drinking habits. The percentage of bone marrow sideroblasts was also lower in our patients than those described in the literature mentioned above. The changes in maturation are likely to be caused partially by a toxic effect of alcohol on nuclear metabolism of bone marrow cells.
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PMID:[Alcohol induced changes in hemopoiesis (author's transl)]. 731 98

We identified 35 homozygotes for hemochromatosis through pedigree studies. Thirteen were asymptomatic. Arthropathy was present in 20, hepatomegaly in 19, transaminasemia in 16, skin pigmentation in 15, splenomegaly in 14, cirrhosis in 14, hypogonadism in six, and diabetes in two. No homozygote was in congestive failure. Only one had the triad of hepatomegaly, hyperpigmentation, and diabetes. Serum iron was increased in 30 of 35, transferrin saturation was increased in all 35, serum ferritin in 23 of 32, urinary iron excretion after deferoxamine in 28 of 33, hepatic parenchymal cell stainable iron in 32 of 33, and hepatic iron in 27 of 27. Iron loading was 2.7 times greater in men than in women. No female had hepatic cirrhosis. Diagnosis of asymptomatic hemochromatosis is important because organ damage may be prevented by early therapy. Clinical diagnosis of early hemochromatosis is difficult. Persons with unexplained elevation of transferrin saturation should be studied for hemochromatosis.
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PMID:Homozygosity for hemochromatosis: clinical manifestations. 743 83

Although hereditary hemochromatosis is an autosomal recessive disease, most homozygotes are concerned with the genetic implications for their children. The optimal age for testing children and the cost implications of screening their children have not been clearly established. A clinical database consisting of 255 children from families with at least one homozygote is used to assess the prevalence of homozygotes among children of homozygous parents and to review the biochemical abnormalities and life-threatening symptoms in these young adults. Decision analysis is used to estimate the cost and utility of screening children of a homozygous parent. Eleven homozygotes were discovered among children of homozygotes. Only one male had a life-threatening event, cirrhosis. Decision analysis estimated cost saving of $12 per child screened ($ net present value) and a saving of 10 quality-adjusted days per child screened at age 10 years compared with not screening. If screening began at age 20 years, there is a cost saving of $65 per child screened. Sensitivity analysis showed that the major factors influencing cost savings were the cost of venesections, sensitivity and specificity of the screening tests, and prevalence of disease. Because the prevalence of hemochromatosis is higher in children of homozygotes than in the general population, screening with transferrin saturation and ferritin as early as age 10 years is recommended. Savings are augmented if the cost per venesection is eliminated by allowing hemochromatosis patients to become voluntary blood donors.
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PMID:Screening for hemochromatosis in children of homozygotes: prevalence and cost-effectiveness. 748 80

Blood serum ferritin levels were measured by indirect hemagglutination test in patients with diseases of the liver, bile duct, and gastrointestinal tract. Ferritin levels were found increased in the majority of patients, though to a different measure. Its concentrations were the highest in patients with virus hepatitis A, cirrhosis of the liver, and reactive nonspecific hepatitis, normalizing in the course of treatment, These data prompt the use of ferritin measurements in the diagnosis, monitoring the course of treatment, and prediction of the outcomes of acute and chronic diseases of the liver, bile duct, and gastrointestinal tract.
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PMID:[The assessment of the ferritin level in gastroenterological diseases]. 762 Jul 92

The erythrocyte (RBC) ferritin content was measured in patients with chronic liver diseases including alcoholic liver disease, liver cirrhosis (LC) and hepatocellular carcinoma (HCC), and normal subjects as controls. The relationship between RBC ferritin content and iron deposition in hepatocytes was studied. The mean RBC ferritin content (MV +/- 1SD) from normal subjects was 20.7 +/- 9.7 ag/cell in male, 11.1 +/- 5.5 ag/cell in female (ag = 10(-18)g). RBC ferritin content from chronic liver disease was higher than that of normal subjects, especially in liver cirrhosis. It elevated to 71.0 +/- 52.2 ag/cell in male, and 41.6 +/- 35.0 ag/cell in female. The iron deposition in hepatocyte was observed mostly in patients with RBC ferritin content over 20 ag/cell. The microheterogeneities of RBC ferritin from liver cirrhosis was examined by isoelectric focusing (IEF) and compared with that of normal subjects. RBC ferritin from normal subjects was detected at pI range from 5.1 to 5.7 in most cases, while it was detected at pI range from about 5.0 to 6.0 in the liver cirrhosis. More basic ferritin was detected in the latter and the peaks of pI was also more basic than that of normal controls. Since patients with liver cirrhosis examined had iron deposition in hepatocytes, it is conceivable that the occurrence of basic ferritin reflects iron overload in the liver. Taking these results together, it was concluded that the presence of iron deposition in hepatocytes and the degree of iron overload can be assumed from the determination of RBC ferritin content, a noninvasive procedure.
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PMID:[The relationship between RBC ferritin content in chronic liver diseases and iron deposition in hepatocytes]. 786 62

There are several inherited and acquired disorders that can result in chronic iron overload in humans, and the major clinical consequences are hepatic fibrosis, cirrhosis, hepatocellular cancer, cardiac disease, and diabetes. It is clear that lipid peroxidation occurs in experimental iron overload if sufficiently high levels of iron within hepatocytes are achieved. Lipid peroxidation is associated with hepatic mitochondrial and microsomal dysfunction in experimental iron overload, and lipid peroxidation may underlie the increased lysosomal fragility that has been detected in liver samples from both iron-loaded human subjects and experimental animals. Reduced cellular ATP levels, impaired cellular calcium homeostasis, and damage to DNA may all contribute to hepatocellular injury in iron overload. Long-term dietary iron overload in rats can lead to increased collagen gene expression and hepatic fibrosis, perhaps due to activation of hepatic lipocytes. The mechanisms whereby lipocytes are activated in iron overload remain to be elucidated; possible mediators include aldehydic products of iron-induced lipid peroxidation produced in hepatocytes, tissue ferritin, and/or cytokines released by activated Kupffer cells.
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PMID:Pathophysiology of iron toxicity. 788 29

Hereditary hemochromatosis is a common disorder of iron metabolism with a prevalence as high as 8 per 1000. Affected individuals absorb excessive amounts of dietary iron and over time, tissue iron deposition results in skin discoloration, arthropathy, hepatic cirrhosis, heart failure, diabetes mellitus and impotence. Early diagnosis and institution of phlebotomy treatments will prevent these manifestations and normalize life expectancy. Once organ damage is established many of the manifestations are irreversible. Since the early manifestations of the disease are subtle, a case can be made for routine screening. This conclusion is supported by cost-effectiveness analysis based on available data. A reasonable screening strategy would start with a serum transferrin saturation. A value > or = 55% should trigger a repeat transferrin saturation in a fasting state and a serum ferritin level. If both these tests are abnormal, a liver biopsy with quantitative iron determination is the currently accepted confirmatory test.
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PMID:Management of hereditary hemochromatosis. 788 27

Serum ferritin H and L subunit levels and H/L ratios were evaluated in normal subjects and patients with various diseases by means of enzyme-linked immunosorbent assay using monoclonal antibody against ferritin H or L subunits. In normal subjects, serum levels of H subunit were significantly lower than those of L subunit, as previously reported by Cazzola and coworkers. Although the serum levels of L subunit were elevated and the values of H/L ratios were decreased in inflammatory diseases, serum levels of H subunit were remarkably high in patients with infectious mononucleosis. In liver disease, elevation of mean values of L subunit was observed. However, in liver cirrhosis and severe acute hepatitis, the serum levels of H subunit were often elevated as well as those of L subunit, and so it was suggested that the elevation of H subunit was related to the degree of hepatocellular injury. In hepatocellular carcinoma and pancreatic cancer, since the levels of H/L ratio were higher than controls and no correlation was observed between H and L subunits, it was suggested that the production of H subunit was increased in these cancers. However, the result of H/L ratio determination in serum ferritin did not appear enough to be important for tumor marker, because of a few instances demonstrated over the cut off limit of H/L ratio in neoplastic diseases. The rate of the patients whose H or L subunit levels were over the cut off point was higher in leukemia than in solid cancer, and so it was likely that the measurement of H and L subunit at the same time was clinically useful in leukemic patients. In acute myeloblastic leukemia, relatively high levels of serum L subunits and low H/L ratio were shown. It was suggested that the measurement of H and L subunits in patients with neoplastic diseases would also be useful for monitoring the effect of the therapy.
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PMID:[Clinical significance of serum ferritin H and L subunit determination in various diseases--evaluation by enzyme-linked immunosorbent assay]. 795 82


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