Cooper and ceruloplasmin contents were determined in samples of peripheral and pre-hepatic venous blood of 11 patients with Manson's schistosomiasis and one patient with hepatolenticular degeneration, all of çhich submitted either to porto-caval or spleno-renal shunt. Individual difference were not significant in any of the non-Wilsonian patients. The results are discussed in regard to the curr...

To the Editor: Wilson’s disease (hepatolenticular degeneration) is an autosomal recessive defect of cellular copper export. Patients most often present with liver disease (which can range from asymptomatic elevations in the serum aminotransferase or bilirubin concentrations to fulminant hepatic failure) or with neuropsychiatric disease. About 20% incidence of psychiatric disturbances has been r...

Clinically and electrophysiologically confirmed cases of primary retinitis pigmentosa have been investigated regarding their copper metabolic state. It is observed that these patients show a normal or near normal serum copper concentration, very low plasma caeruloplasmin concentration, and a very high copper urinary excretion. A similarity between this condition and hepatolenticular degeneratio...

The ultrasonographic study of 33 patients with hepatolenticular degeneration showed the following main changes: disorders of the hepatic echotexture (29 cases), changes of the splenic dimensions (21), liver shrinkage (10), cholelithiasis (8), hepatomegaly and ascites (1). The disorders of liver echotexture exhibited different patterns, from slight to severe changes of the hepatic echogenicity, ...

Hepatolenticular degeneration, a condition inherited in an autosomal recessive fashion, is generally thought to be due to a biochemical defect associated with the retention of copper in the tissues, principally the brain, liver, and kidneys, an increased excretion of the metal in the urine, and a low level of caeruloplasmin, the copper-binding alpha-globulin in the plasma. A number of products ...

The values which have been published for the copper content of the fluids and tissues of normal people differ widely, and in many instances a critical examination of the analytical technique employed reveals serious defects which probably influenced the results. In our investigation of the copper status of cases of disseminated sclerosis and hepatolenticular degeneration it was therefore consid...

biochemical parameters were within the normal reference ranges. Thrombocytes were 77 ! 10 9 /l; neither thrombocyte aggregation nor schistocytes were found on peripheral blood smear examination. The autoantibodies against ds-DNA, Sm, Ro/ SS-A, La/SS-B and RNP antigens (ELISA) and ANA titer (1: 40 HEP-2) were negative. The antiphospholipid antibodies – IgG isotype (48 GPL) and IgM isotype (56 GP...