Deficiency of Ceruloplasmin in Patients with Hepatolenticular Degeneration (Wilson's Disease)

Scheinberg, I. Herbert; Gitlin, David

doi:10.1126/science.116.3018.484

Cited by 398 publications

(134 citation statements)

References 8 publications

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“…To date, hypocupremia has been observed consistently in human subjects in only three situations; namely, the newborn (28), Wilson's disease (5,29,30), and the nephrotic syndrome. A dietary deficiency of copper has not, as yet, been clearly demonstrated in a human subject (31).…”

Section: Discussionmentioning

confidence: 99%

Studies on Copper Metabolism. XI. Copper and Iron Metabolism in the Nephrotic Syndrome 1

Cartwright¹,

Gubler²,

Wintrobe³

1954

J. Clin. Invest.

124

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The metabolism of copper and iron in the nephrotic syndrome has received little attention. In view of the fact that copper in the plasma is bound almost exclusively to an a2-globulin (ceruloplasmin) with a molecular weight of approximately 151,000 (1, 2) while iron is bound to a #l,-globulin (transferrin) with a molecular weight of about 90,000 (3), it would seem not unlikely that these two metal-binding proteins might be excreted in large quantities in the urine of patients with pronounced proteinuria. If this loss were great and extended over a prolonged period, it is conceivable that depletion of the body stores of these two elements might occur or the capacity of the body to synthesize these two proteins might be exceeded, with the consequence that the plasma level of ceruloplasmin and transferrin would be reduced.In the course of investigations in this laboratory concerning the anemia associated with infection (4), a patient was studied who, while afflicted with chronic osteomyelitis, developed the nephrotic syndrome. In association with the severe hypoproteinemia and proteinuria, the plasma copper level decreased from 246 ug. per 100 ml., the high levels usually found with infection, to 40 JUg. per 100 ml. in'spite of the continued presence of osteomyelitis. More recently (5) we observed hypocupremia in two of three children with the nephrotic syndrome. Munch-Petersen (6) has reported that the urinary excretion of copper is increased in patients with proteinuria and that the amount of copper excreted is greatest in those with the highest concentration of protein in the urine. Although he did not record the plasma copper values he stated that there was no correlation between the plasma copper concentration and the amount of copper in the urine.

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Section: Discussionmentioning

confidence: 99%

Studies on Copper Metabolism. XI. Copper and Iron Metabolism in the Nephrotic Syndrome 1

Cartwright¹,

Gubler²,

Wintrobe³

1954

J. Clin. Invest.

124

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“…Therefore, normally, changes in the concentration of serum copper parallel those of ceruloplasmin. A decreased concentration of serum copper is most frequently the consequence of inadequate synthesis of ceruloplasmin, as in Wilson's disease (4) ; of interference with protein synthesis associated with severe malnutrition (5) or rarely severe hepatic dysfunction (6) ; or of excessive urinary or fecal losses from the body (7,8). The present study presents evidence that impaired absorption of copper may also result in a decreased concentration of serum ceruloplasmin.…”

mentioning

confidence: 60%

Absorption of Copper in Malabsorption Syndromes*

Sternlieb¹,

Janowitz²

1964

J. Clin. Invest.

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“…It was twelve years later, in 1948, that Cumings 18 described the copper abnormalities in Wd and posteriorly, in 1952, Scheinberg and Gitlin 19 showed that the ceruloplasmin levels were low in most of Wd patients.…”

Section: Discussionmentioning

confidence: 99%

Wilson's Disease: a case report and a historical review

Barbosa

Machado

Cançado

et al. 2009

Arq. Neuro-Psiquiatr.

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-The purpose of this report is to present a short review of the history of Wilson's disease and to describe the first diagnosed case at the Neurologic Clinic of Hospital das Clínicas of São Paulo University Medical School. The topics of the historical review are the first contributions of authors along the second half of the XIX century, the seminal monograph of Samuel Alexander Kinnier Wilson (1912), the landmarks in the investigation of mechanisms of the disease and the introduction of the first effective treatment by John Walshe (1956). The first case studied in our Clinic, in 1946, was a 20 year-old male whose main neurological manifestations were postural tremor ("wing beat") and dysarthria and could be characterized as WestphalStrümpell form of the disease. Along the discussion of this case difficulties to establish the diagnosis and to treat the patient at that time are highlighted. We conclude with a brief history of the development of researches on Wilson's disease in our Clinic, with an honor to the pioneer contributions of Horacio Martins Canelas.Key WordS: Wilson's disease, historical review, copper metabolism. Doença de Wilson: relato de caso e revisão históricaResumo -Neste artigo inicialmente é feito um retrospecto dos principais marcos na história dos conhecimentos sobre a doença de Wilson, desde as primeiras descrições de casos no século XIX, passando pela magnífica monografia de Samuel Alexander Kinnier Wilson, m 1912, pelas descobertas sobre a causa da doença e chegando à era do tratamento efetivo da moléstia inaugurada por Walshe em 1956. A seguir, relata-se o primeiro caso de doença de Wilson estudado na Clínica Neurológica do HC-FMUSP. o paciente admitido na Clínica Neurológica em 1946, aos 20 anos de idade, apresentava a variante da doença em que predominavam tremor postural e disartria, conhecida como forma de Westphal-Strümpell. Na discussão, são ressaltadas as dificuldades da época para a confirmação do diagnóstico e para o tratamento; além de se realizar um breve histórico do estudo da doença na Clínica Neurológica, com o devido realce para a figura de Horácio Martins Canelas, pela sua participação pioneira nas pesquisas sobre a doença de Wilson em nosso meio.PAlAvrAS-CHAve: doença de Wilson, revisão histórica, metabolismo do cobre.

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Deficiency of Ceruloplasmin in Patients with Hepatolenticular Degeneration (Wilson's Disease)

Cited by 398 publications

References 8 publications

Studies on Copper Metabolism. XI. Copper and Iron Metabolism in the Nephrotic Syndrome 1

Studies on Copper Metabolism. XI. Copper and Iron Metabolism in the Nephrotic Syndrome 1

Absorption of Copper in Malabsorption Syndromes*

Wilson's Disease: a case report and a historical review

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