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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirteen family members of a patient with chronic active hepatitis type B were investigated. The family included both parents, 6 sons, and 5 daughters. The parents were second cousins. HBsAg, liver tests, immunological evaluation, and HLA typing were performed on all subjects. Percutaneous liver biopsies were done on the mother and 5 of the 6 sons. The mother and all 6 sons had HBs antigenemia. The mother was free from any evidence of liver disease whereas all 6 sons had abnormal liver and immunological tests. The liver biopsies of 5 sons showed chronic active hepatitis with variable degrees of progression toward cirrhosis. The 6th son could not be biopsied in view of his prolonged prothrombin time. The father and the 5 daughters were HBsAg negative and had no evidence of liver disease. Immunological abnormalities were present in all of the effected children and in the mother and 3 daughters. This is the second report in the English literature on the familial occurrence of chronic active hepatitis type B. It emphasizes the predominance of this entity in the male offspring and confirms the presence of immunological abnormalities in the relatives of such patients. There was no evidence to link the inheritance of an immunological abnormality to clear the HBsAg to the histocompatibility complex.
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PMID:Genetic and immunological aspects of familial chronic active hepatitis (type B). 66 17

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.
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PMID:The clinical manifestations of chronic iron overload. 266 Sep 35

Hereditary hemocromatosis (HH) is a genetic disease with a recessive autosomic pattern, in which inadequate iron (Fe) absorption is made by the intestinal cell. As consequence of that process, takes place a progressive accumulation of metal in different organs, predominantly in the liver. This leads to an alteration of liver structure and function: cirrhosis and hepatocarcinoma (1). The gene implied in this pathology was identified (HFE) in 1996. This codes a similar molecule to the mayor histocompatibility complex type 1(MHC-T1 like) that can modulate the transport of PE binding the transferrin receptor. This progress allows a deep understanding of the molecular and cellular biology of the homeostasis of the Fe and its alterations in the NH. The diagnosis of disease by means of a genetic test let to carry out a familiar screening and to detect asymptomatic carriers. This makes possible to begin the appropriate treatment at early stages of the disease in order to avoid its consequences and offering a better quality of life to these patients.
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PMID:[Advances in hereditary hemochromatosis]. 1470 3