Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.16.3.1 (ceruloplasmin)
 5,074 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three patients, one with cryptogenic cirrhosis, one with active chronic hepatitis and one with neonatal hepatitis, were found to have corneal pigmentation rings indistinguishable from early Kayser-Fleischer rings on slit lamp examination. They did not have the clinical features of Wilson's disease and their serum copper and ceruloplasmin concentrations were normal. Urinary copper excretion rates and hepatic concentrations were only slightly raised but were below the range found in symptomatic Wilson's disease. It is concluded that the Kayser-Fleischer ring would no longer be considered as pathognomonic of Wilson's disease.
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PMID:Kayser-Fleischer-like rings in patients without Wilson's disease. 55 26

Wilson's disease, or hepatolenticular degeneration, is a rare inherited disorder of copper metabolism which usually affects young people. Excess copper accumulates in the tissues, primarily in the liver, brain, and cornea. This copper deposition results in a wide range of hepatic and neurological symptoms, and may produce psychiatric illness. Hepatic involvement often occurs in childhood, while neurological deficits generally are detected at a later age. The disease is inherited in an autosomal recessive fashion. Ocular findings are of particular importance because the corneal copper deposition, forming the Kayser-Fleischer ring,is the only pathognomonic sign of the disease. The structure of the ring and the presence of copper have been well established. An anterior capsular deposition of copper in the lens results in a characteristic sunflower cataract in some of these patients. Other ocular abnormalities have been described but are much less common. The pathogenesis of the disease and the basic genetic defect remain obscure. It is clear that there is excess copper in the tissues, but the mechanism of its deposition is unknown. It is in some way associated with a failure to synthesize the serum copper protein ceruloplasmin normally. Another theory suggests that an abnormal protein with a high affinity for copper may bind the metal in the tissues. The diagnosis may be suggested by the clinical manifestations and confirmed by the presence of a Kayser-Fleischer ring. In the absence of these findings biochemical determinations are necessary. The most important of these are the serum ceruloplasmin, the urinary copper, and the hepatic copper concentration on biopsy. Treatment consists in the administration of the copper chelating agent, penicillamine, and the avoidance of a high copper intake. This usually results in marked clinical improvement if irreversible tissue damage has not occurred. Maintenance therapy for life is necessary in order to continue the negative copper balance. The detection and prophylactic treatment of asymptomatic individuals with the disease is especially important. Seven cases of Wilson's disease have been presented in order to illustrate many of the features which have been discussed, with emphasis on the ocular findings.
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PMID:Wilson's disease (hepatolenticular degeneration). 102 89

We reviewed retrospectively 12 patients with Wilson's disease diagnosed during a 16-year period (1974-1989). The prevalence rate was 0.6 per 100,000 individuals. Clinical onset was hepatic (50%) or neurologic (50%), but at diagnosis (6.4 years later) 67% of patients showed several clinical manifestations: hepatic, neurologic, renal and haematologic. Among the essential diagnostic indices we find false negative results for Kayser-Fleischer ring (25%), serum ceruloplasmin (8%) and total serum copper (34%). Ten patients were treated with penicillamine. This drug was effective and well tolerated, although one patient (10%) developed membranous nephritis and required to change successively to BAL and trien. In a 61 months follow-up 5 patients (42%) died from severe liver failure. Patients with poor prognosis had a diagnostic delay and a liver failure degree significantly greater than patients with good prognosis. Our results suggest the following conclusions: a) in Spain the prevalence rate of Wilson's disease is near the lower reported rate; b) the early diagnosis of Wilson's disease is rare; c) diagnosis should be made only when several essential indices are positive; d) early hepatic transplantation showed carried out in patients with acute or chronic severe liver failure.
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PMID:[Wilson's disease. A retrospective analysis of 12 cases]. 157 93

The authors describe the case of a 27-year-old female patient with Wilson's disease who during penicillinamine treatment became pregnant and was delivered of a healthy infant. The diagnosis of Wilson's disease was confirmed by the finding of a Kayser-Fleischer ring in the cornea and a concurrent serum ceruloplasmin concentration lower than 0.20 g/l. Unrecognized and untreated, the disease is associated with the development of organ complications which in the end prove fatal. On the other hand, early diagnosis and effective treatment throughout life can prevent liver and brain damage and thus enable the patient to live a normal life and women can have a healthy child.
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PMID:[Wilson's disease and pregnancy]. 159 20

We describe in this work a clinical case of a female patient aged 21 years, bearer of Wilson's disease, a first clinical manifestation of the disease occurred as an acute hemolytic crisis followed by fulminant hepatic failure evolving to death after 26 days' internment. The definitive diagnosis was obtained only as a quantitative measurement of hepatic copper from the necropsy material. The search for Kayser-Fleischer ring was negative and the serum ceruloplasmin level was 9 mg/dl (15 to 60). No involvement of the central nervous system was noted from the pathologic analysis. The patient presented two Coombs negative hemolytic crises during the internment; the first on being admitted to hospital and the second after a transjugular hepatic biopsy carried out on the 16th day after internment. The last hemolytic crisis was accompanied by an increase of serum and urinary copper levels. On this occasion the patient evolved to a progressive hepatic failure with severe jaundice and hepatic encephalopathy. We are presenting the clinical-biochemical evolution of the patient and we shall discuss the existent hypotheses to the pathophysiology of this rare form for manifestation of the Wilson's disease as well the diagnostic difficulties.
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PMID:[Acute hemolytic crisis followed by fulminant hepatic failure with fatal outcome, as a first clinical manifestation of Wilson's disease]. 781 96

We report a 27-year-old woman who developed Coombs' negative hemolytic anemia and fulminant hepatic failure as the initial manifestation of Wilson's disease. Unmeasurably low level of serum alkaline phosphatase provided a clue to the diagnosis of Wilson's disease. The diagnosis was established with the presence of Kayser-Fleischer ring, decreased serum ceruloplasmin level, and elevated urine and serum copper levels. In spite of repeated plasmapheresis, she died of multiorgan failure on the fifth hospital day.
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PMID:Acute hemolytic crisis with fulminant hepatic failure as the first manifestation of Wilson's disease: a case report. 981 Nov 88

We describe a case of Wilson's disease with late psychiatric onset. Major depressive disorder was the first clinical manifestation at the age of 38 years. After pharmacotherapy with antidepressive agents, a manic episode was observed. Extrapyramidal hand tremor and micrography were the first neurological signs. Emotional lability occurred during worsening of extrapyramidal signs. Diagnosis was based on urinary and serum copper levels, ceruloplasmin serum level, Kayser-Fleischer ring, and liver biopsy that detected cirrhosis. Magnetic resonance imaging revealed basal ganglia hyperintensity on T1-weighted images, and hypodensity in the central part and hyperintensity in the peripheral part of the lentiform nucleus on T2-weighted images. Hyperintensity on T2-weighted images was also observed in the dorsal part of the midbrain. 123I-iodobenzamide single photon emission computed tomography (IBZM-SPECT) detected a normal distribution of the drug in the brain, with better signal in the right side and deficit of D2-dopaminergic receptors in the basal ganglia. Abnormal manganese erythrocyte level was observed. Treatment was based on penicillamine, zinc salts, low-copper diet, antidepressant agents, interpersonal psychotherapy and neurorehabilitation.
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PMID:Psychiatric symptoms as late onset of Wilson's disease: neuroradiological findings, clinical features and treatment. 1093 85

Patients with systemic lupus erythematosus (SLE) have a chance of developing liver involvement in their lifetime. The main cause of liver involvement in SLE patients is previous treatment with hepatotoxic drugs or hepatotropic viral hepatitis. Wilson's disease is a hereditary disorder and is usually diagnosed in patients presenting either neuropsychiatric disorders or manifestations related to chronic liver disease. Fulminant hepatic failure as the initial manifestation of Wilson's disease is rare. The relationship between systemic lupus erythematosus and Wilson's disease has not been established. We report a case of a 12-year-old girl with SLE who presented fulminant hepatic failure as an initial manifestation of Wilson's disease. The diagnosis was established with decreased serum ceruloplasmin level and the presence of Kayser-Fleischer ring. We treated with repeated plasma exchange. Despite repeated plasma exchange she died of multi-organ failure on the 16th hospital day. Considering this case, Wilson's disease should be considered as a cause of fulminant hepatic failure, especially in juvenile age cases.
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PMID:[A case of fulminant hepatic failure in Wilson's disease combined with systemic lupus erythematosus]. 1249 22

Wilson's disease (WD) is an autosomal-recessive inherited disorder of copper metabolism characterized by excessive deposition of copper throughout the body. If medical treatment fails in cases of fulminant hepatic failure and progressive hepatic dysfunction due to advanced cirrhosis, liver transplantation (OLTx) has been demonstrated to be a valuable treatment option. Between December 1993 and December 2002, 225 OLTxs in 198 patients were performed in our institution. In this consecutive series six patients (three females and three males) were liver grafted for WD. The follow-up ranged from 3 to 7 years. All patients are alive with well-functioning grafts at present. The ceruloplasmin levels increased after transplantation and remained normal. The Kayser-Fleischer ring disappeared in all patients, and urinary copper excretion normalized. The neurological manifestations in the two patients with severe neurological symptoms showed after 2 to 5 years a downward tendency; in one the ataxic movements disappeared completely. The psychiatric disorder in one patient disappeared as well the mild neurological symptoms in the patient with CHILD A cirrhosis. These two patients are fully recovered and returned to work. OLTx should be considered as a treatment option in patients with severe progressive neurological deficits even in cases with stable liver function since liver grafting definitely cures the underlying biochemical defect. In such cases an early decision for liver transplantation is justified because neurological deficits may become irreversible.
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PMID:Liver transplantation for hepatic and neurological Wilson's disease. 1282 86

A case of Wilson's disease, a rare autosomal recessive disorder of copper metabolism is reported here. The patient was presented with the difficulty in speech and writing for 4 years and also on walking for 1 year. He also noticed difficulty to perform any work by hands for 6 months. He had splenomegaly and bilateral gynaecomastia. His speech was low volume slurred and monotonous, muscle tone was mildly increased, and gait was limping. Slit lamp examination of eye revealed bilateral Kayser-Fleischer ring with normal visual acuity. Investigations revealed low serum albumin(26 gram/L), increased alanine trans-aminase ( A.L.T=57 U/L). Ultrasonogram of hepatobiliary system revealed coarse hepatic tissue echotexture with splenomegaly. Liver scan showed slightly nonuniform radiotracer distribution in the liver, there was slight increased bony uptake. Serum caeruloplasmin level was 11.51 mg/dl. 24 hours urinary copper excretion was 150 microgram per day. Liver biopsy revealed cirrhotic change. Now he was advised for taking copper chelating agent (penicillamine) in a dose of 1 gram/day.
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PMID:A case report on Wilson's disease. 1289 51


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