Liver biopsy in diagnosis of hemochromatosis

Kent, Geoffrey; Pópper, Hans

doi:10.1016/0002-9343(68)90083-1

Cited by 41 publications

(5 citation statements)

References 13 publications

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“…The parenchymal iron accumulation in the livers of[32m / mice resembles that of HH patients and contrasts with the histopathological findings in other iron storage disorders in man. The amount of demonstrable iron in macrophages in HH is minimal until the late stages of the disease (27,(39)(40)(41)(42). By contrast, iron accumulation in the overload diseases Bantu siderosis (in Africa) and Kaschin-Beck (in Asia) is prominent both in mononuclear phagocyte system cells and in hepatic parenchymal cells (43)(44)(45).…”

Section: Discussionmentioning

confidence: 99%

Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man.

Santos¹,

Schilham²,

Rademakers³

et al. 1996

The Journal of Experimental Medicine

181

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Previously, hepatic iron overload resembling that in hereditary hemachromatosis (HH) has been found in beta 2-microglobulin knockout (beta 2m-/-) mice. We have now characterized iron metabolism in beta 2m-/- mice. The mutant mice fail to limit the transfer of iron from mucosal cells into the plasma. Transferrin saturation is abnormally high. Pathologic iron depositions occur predominantly in liver parenchymal cells. Reconstitution with normal hematopoietic cells redistributes the iron from parenchymal to Kupffer cells, but does not correct the mucosal defect. We conclude that (a) iron metabolism is defective in the gut mucosa as well as the liver of beta 2m-/- mice; and (b) a beta 2m-dependent gene product is involved in iron homeostasis. Recently, a novel gene of the major histocompatibility complex class I family, HLA-H, has been found to be mutated in a large proportion of HH patients. Our data provide functional support for the proposed causative role of HLA-H mutations in HH.

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Section: Discussionmentioning

confidence: 99%

Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man.

Santos¹,

Schilham²,

Rademakers³

et al. 1996

The Journal of Experimental Medicine

181

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“…It has been suggested in previous reports that cirrhosis itself may be responsible for significant hemosiderosis. [9][10][11] The mechanisms by which iron accumulates in cirrhosis other than the iron overload disease, hereditary hemochromatosis, have not been well defined but are likely to be complex and multifactorial. In 1996, Feder et al 12 described a strong candidate gene for hereditary hemochromatosis.…”

mentioning

confidence: 99%

Increased Hepatic Iron and Cirrhosis: No Evidence for An Adverse Effect on Patient Outcome Following Liver Transplantation

et al. 2000

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It has been suggested that preexisting severe hepatic iron overload may adversely affect outcome after liver transplantation. The pathogenesis of iron overload in cirrhosis in the absence of hemochromatosis gene (HFE) mutations is poorly understood. The relationships between liver disease severity and etiology, degree of hepatic iron overload, and post-liver transplantation outcome were studied in 282 consecutive adult patients with cirrhosis. Thirty-seven percent of patients had stainable hepatic iron. Increased hepatic iron concentration was significantly associated with more severe liver disease (P<.001), male sex (P = .05), the presence of spur cell anemia (P<.0001), and hepatocellular liver disease (P<.0001). The HFE mutations were uncommon in patients with increased hepatic iron stores. Increased hepatic iron concentration was not associated with greater utilization of resources or a lower survival after liver transplantation. Child-Pugh score at the time of liver transplantation was the only independent variable affecting patient survival (P = .0008). In summary, our data suggest that the severity of the liver disease rather than hepatic iron concentration is the most important determinant of outcome after liver transplantation and that, in general, increasing hepatic iron concentration in cirrhosis is a surrogate marker of the severity of the underlying liver disease.

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“…The degree of fibrosis was on the whole slight to moderate which seems to be in fair agreement with our results. Kent and Popper (1968) stated that siderosis occurs due to blood transfusion, haemolysis, or preceding hepatitis. A function of combined reticulo-endothelial and parenchymal siderosis in equal degree is suggestive of haemochromatosis associated with anaemia.…”

Section: Discussionmentioning

confidence: 99%