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

Several inherited forms of iron overload have been described. It is now accepted that HC, usually regarded as a disease of adult life, is an inherited disorder, hence all first degree relatives must be presumed to be at increased risk of developing iron overload and the diagnosis is now frequently made in young relatives. The combination of serum iron, transferrin saturation and serum ferritin determination will detect iron overload in an early, precirrhotic stage. Liver biopsy and the determination of hepatic iron concentration provide the definitive proof. Where HC is recognized sufficiently early to permit adequate removal of iron before cirrhosis has developed, the prognosis is excellent. Thus haemochromatosis as a clinical disease should be preventable in a large proportion of patients. Severe iron overload has been described in juveniles and also in neonates. These conditions are familial but whether they are HLA-related has not been determined. Cardiac and endocrine disorders are frequently the presenting manifestations of parenchymal iron overload in the young and, at least in neonates, the condition is usually fatal in early infancy. It is not possible at present, to say whether these rare juvenile and neonatal forms of haemochromatosis are related to the much more common adult form. Identification of the gene for HC may assist in answering this question.
 ...
PMID:Inherited iron overload. 248 90

Hemochromatosis, or primary iron overload, is a variably expressed genetic metabolic disorder greatly modified by sex, age, diet, and alcohol consumption. Although a diagnosis has been made at the bedside by careful documentation of the slow resolution of subcutaneous iron pigment, clinical diagnosis is frequently overlooked, and even autopsy may fail to reveal hemochromatosis as the cause for cirrhosis. Genetic linkage studies have confirmed the extremely high prevalence of this disorder. Untreated patients may succumb to sepsis caused by organisms such as Vibrio vulnificus, Yersinia species, and others whose virulence is altered by iron availability.
 ...
PMID:Hemochromatosis and infection: alcohol and iron, oysters and sepsis. 248 33

Of 72 patients who underwent jejunoileal bypass because of morbid obesity, 69 could be evaluated with special reference to long-term (median 11 years) results. One of the other three had fatal anastomotic leakage, one underwent resection and reversal of shunt because of postoperative gangrene in the bypassed segment, and one died of sepsis and liver failure following cholecystectomy 6 months after bypass. The median body mass index (kg/m2) fell from 45.4 preoperatively to 33.2 after 16 years. Shunt-related complications in early and late follow-up were diarrhoea (n = 15), anal/perianal disorders (15), arthralgia (15), urinary calculi (16), cholelithiasis (5), severe flatulence (7), liver cirrhosis (5), intestinal tuberculosis (1), ileitis (1), severe electrolyte disturbance (4), hypomagnesaemia (22), hypokalaemia (8), and deficiency of vitamin B12 (24), iron (24) and folate (17). Although jejunal bypass effectively reduces weight, the patients are at continuous risk of many complications. However, the improvement in quality of life should not be underestimated.
 ...
PMID:Jejunoileal bypass for morbid obesity. Report of a series with long-term results. 259 48

In three patients with histologically proven liver cirrhosis, a large number of small, low-intensity nodule(SLIN)s was clearly seen on gradient echo(GRE) images which are sensitive to field inhomogeneity. A histological study revealed that the SLINs corresponded to the regenerating nodules, laden with iron, of liver cirrhosis. As TE was prolonged, the SLINs increased in size in all three cases and fused with each other in one of three cases on GRE images. This phenomenon suggests that the magnetic susceptibility effect due to iron included in the regenerating nodules is the cause for the regenerating nodules shown as SLINs on GRE images, and that one SLIN does not always correspond to one regenerating nodule. We conclude that GRE images should be considered important for diagnosis of regenerating nodules in liver cirrhosis.
 ...
PMID:[Siderotic regenerating nodules in liver cirrhosis--evaluation by gradient echo (FLASH) imaging 1.5T]. 260 6

Primary or genetic haemochromatosis is an inherited disease characterized by an inappropriate degree of iron absorption with accumulation of excessive amounts of tissue iron. Parenchymal iron accumulation results in the typical clinical features of the disease including hepatic cirrhosis, diabetes, testicular atrophy and skin pigmentation. The disease is inherited in an autosomal recessive manner. The gene for the disease has not been identified but is tightly linked to the A locus of the histocompatibility complex on chromosome 6. The approximate homozygote frequency in Caucasians is 0.3% with an equal sex ratio. Excessive body iron stores have been described in a number of other conditions, particularly alcoholic liver disease. There is increasing evidence that many of these individuals are in fact also suffering from genetic haemochromatosis. Diagnostic tests including serum iron, transferrin saturation, serum ferritin and liver iron concentration make it possible to detect sufferers of the disease. Screening relatives of affected individuals with these tests allows a diagnosis to be made before permanent tissue damage has occurred. Removal of excess iron stores by repeated phlebotomy is the primary treatment. If iron is removed before significant tissue damage has occurred, the complications and natural course of the disease will be prevented provided reaccumulation of iron does not occur. Excessive iron accumulation with resultant organ damage also occurs in anaemias associated with ineffective erythropoiesis and after excessive parenteral iron administration or repeated blood transfusions. Similar clinical features may be seen. Chelation therapy is the mainstay of treatment in these cases where long-term venesection is not possible.
 ...
PMID:The clinical manifestations of chronic iron overload. 266 Sep 35

In both hereditary hemochromatosis and in the various forms of secondary hemochromatosis, there is a pathologic expansion of body iron stores due mainly to an increase in absorption of dietary iron. Excess deposition of iron in the parenchymal tissues of several organs (e.g. liver, heart, pancreas, joints, endocrine glands) results in cell injury and functional insufficiency. In the liver, the major pathological manifestations of chronic iron overload are fibrosis and ultimately cirrhosis. Evidence for hepatotoxicity due to iron has been provided by several clinical studies, however the specific pathophysiologic mechanisms for hepatocellular injury and hepatic fibrosis in chronic iron overload are poorly understood. The postulated mechanisms of liver injury in chronic iron overload include (a) increased lysosomal membrane fragility, perhaps mediated by iron-induced lipid peroxidation, (b) peroxidative damage to mitochondria and microsomes resulting in organelle dysfunction, (c) a direct effect of iron on collagen biosynthesis and (d) a combination of all of the above.
 ...
PMID:Hepatic injury in chronic iron overload. Role of lipid peroxidation. 266 96

Iron-chelating treatment is indicated in all children on prolonged transfusion therapy (i.e., chiefly patients with thalassemia and Blackfan-Diamond anemia). The purpose of iron-chelating treatment is to prevent the development of manifestations of iron overload including cardiac hemosiderosis and insulin-dependent diabetes mellitus (which are two potentially fatal complications), hepatic cirrhosis, hypoparathyroidism, hypothyroidism, and delayed puberty. Deferoxamine is the only effective iron-chelating agent and should be given in a daily dose of 40 mg/kg at initiation of the transfusion program. Administration is by subcutaneous infusions from 8 to 10 hours per day. The goal of iron-chelating treatment is to maintain serum ferritin levels between 500 and 1,000 ng/ml. This long-term treatment is a significant burden for patients and it can be hoped that non-toxic iron-chelating agents, active by mouth, will become available.
 ...
PMID:[Iron chelation in children]. 268 51

Iron deposits in the human labial minor salivary glands were examined in a series of 195 postmortem subjects. Iron deposits (hemosiderin granules) were found in 7 subjects (3.6%), and the major types of illness in these cases were liver cirrhosis with or without hepatoma, aplastic anemia and acute myelogenous leukemia. Three out of 7 subjects had a history of blood transfusion. Considerable quantities of hemosiderin granules were deposited within the cytoplasm of the acinar and ductal epithelial cells, and hemosiderin-laden cells were scattered in the interstitial connective tissue.
 ...
PMID:Iron deposits in the human labial minor salivary glands: a postmortem study. 273 86

Results are presented from the determination of tissue iron and ferritin in 15 pathological livers (6 with steatosis, 8 with fibrosis/cirrhosis and 1 with haemochromatosis). The histological assessment according to the Rowe system, after Perls' staining, was compared with the measurement of the iron content in liver homogenate by flameless atomic absorption spectrophotometry. The results of the flameless atomic absorption spectrophotometry were less accurate than in normal livers, but the method can still be considered reliable with satisfactory precision. As in normal livers, the range of chemically determined values in the histological staining grades was considerable and there was quite an overlap between consecutive grades. The chemical determination of liver iron content is to be preferred. The levels of ferritin protein and ferritin iron follow the same pattern as the total iron content.
 ...
PMID:Determination of tissue iron and ferritin in liver pathology comparison of histochemical and biochemical results. 275 94

Resistance to iron accumulation is known as a phenotypic marker of neoplasia and preneoplasia in experimental hepatocarcinogenesis in rodents overloaded by iron. This study was aimed to evaluate whether such iron-free foci are present and valuable for identification of preneoplastic and incipient neoplastic lesions in human cirrhotic livers, especially within macroregenerative nodules in which hepatocellular carcinoma is known to arise. Iron-free foci were found in siderotic macroregenerative nodules in liver cirrhosis. These foci were classic and overt carcinoma or borderline lesions showing an expansive growth pattern. Borderline lesions were composed of hyperplastic or small basophilic hepatocytes with hyperchromasia and distinct nuclear membrane showing pseudoglandular, trabecular, compact, and scirrhous patterns. These data suggest that iron stain is valuable for identification of neoplastic or borderline lesions representing a transition from hyperplastic nodule to carcinoma in human liver cirrhosis.
 ...
PMID:Iron-negative foci in siderotic macroregenerative nodules in human cirrhotic liver. A marker of incipient neoplastic lesions. 275 93


<< Previous 1 2 3 4 5 6 7 8 9 10