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PubMed1990

[Hepatolenticular degeneration].

Hepatolenticular degeneration (Wilson's disease) is a hereditary disease in which metabolic disorder of copper leads to its accumulation in the liver, brain, cornea and kidneys with consequent pathologic changes in those organs. Hereditary mechanism of the disease is autosomal recessive with prevalence of 30-100 per 1,000,000 inhabitants. Etiology of this disease is not yet explained. There are two hypotheses. The first one is that it is the disorder of ceruloplasmine metabolism caused by insufficient synthesis of normal ceruloplasmine, or synthesis of functionally abnormal ceruloplasmine. The second one is: the block of copper biliar excretion which is the consequence of the liver lysosomes functional defect. Pathogenetic mechanism of disease is firstly long-term accumulation of copper in the liver, and later, when the liver depo is full, its releasing in circulation and accumulation in the brain, cornea, kidneys and bones, which causes adequate pathologic changes. Toxic activity of copper is the consequence of its activity on enzymes, particularly on those with -SH group. There are two basic clinical forms of the disease: liver disease or neurologic disease. Before puberty the liver damage is more frequent, while in adolescents and young adults neurologic form of the disease is usual. The liver disease is nonspecific and characterized by symptoms of cirrhosis and chronic aggressive hepatitis. The only specificity is hemolytic anemia which, in combination with previous symptoms, is important for diagnosis of the disease. Neurologic symptoms are the most frequent consequence of pathologic changes in the basal ganglia. In our patients the most frequent symptoms were tremor (63%); dysarthria, choreoathetosis and rigor (38%); ataxia and mental disorders (31%); dysphagia and dystonia (12%), diplopia, hypersalivation, nystagmus and Babinski's sign (6%). Among pathologic changes in other tissues and organs the most important is the finding of Kayser-Fleischer ring in the cornea as a result of copper accumulation. Its importance for precise diagnosis is great. The diagnosis of the disease is based on anamnesis, clinical examination, specific and nonspecific laboratory tests. The therapy of choice is penicillamine. If we use it early, the result will be good remission in the majority of patients. Late diagnosis or delay in treatment cause death which is the result of bleeding from esophageal varices or basal ganglia disease. Immunologic damages caused by penicillamine demand interruption of therapy and substitution by three-ethyl-tetra-amine (TETA). We also use zinc salts and tetratiomolibdate in therapy of this disease. Pathogenesis, clinical picture and therapy of the disease are based on our own results.

Adolescent↗
PubMed1975

Skeletal mass conversions in hepatolenticular degeneration.

The influence of hepatolenticular degeneration, a hereditary disease, and the skeletal mass, has been studied in the present work by determining various parameters of the skeletal mass. As such, the results of the morphometric observation on the second left metacarpal have been considered. The results have shown: a significant decrease of the skeletal mass (osteoporosis), an increased innter diameter (d) which reveals an equally increased osteal absorption (osteolysis) and no connection of the sex, type and duration of the disease with the skeletal mass.

Adolescent↗
PubMed1997

Acanthosis nigricans associated with hepatolenticular degeneration.

Acanthosis nigricans and hepatolenticular degeneration (Wilson's disease) developed simultaneously in a 16-year-old boy. The diagnosis of Wilson's disease was based on the clinical presentation, including Kayser-Fleischer ring, hypoceruloplasminemia, hypocupremia, and hypercupriuria. His skin lesions were characterized by thick, dark brown, verrucous plaques on the dorsa of both feet, the neck, axillae, and groin. The histological findings were compatible with acanthosis nigricans. Six months after treatment with D-penicillamine, two grams per day, his skin lesions and neurological symptoms were much improved and no complications were observed.

Acanthosis Nigricans↗
PubMed2000

[Acoustic brain stem and cognitive evoked potentials (P300) in patients with hepatolenticular degeneration].

18 patients with hepatolenticular degeneration (Wilson's disease, WD) aged 15-38 years were subjected to an overall clinical and neurophysiologic examinations. As a result, the data obtained enable to evaluate functional reserves of CNS of the WD patients in correlation with the illness duration and severity of neurologic symptoms. Correlation between an increase of interpeak I-V and the degree of neurological deficit and, also, level of ceruloplasmin was established (r = -0.45; p < 0.05). Correlation between an increase of latency P300 and the degree of manifestation of neurologic symptoms was identified as well (r = 0.63; p < 0.05). Positive dynamics of evoked potentials was followed in 4 WD patients during copper-eliminative drugs treatment.

Adolescent↗
PubMed1976

Wilson's disease (hepatolenticular degeneration).

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.

Adolescent↗
PubMed1997

Depression in hepatolenticular degeneration (Wilson's disease).

OBJECTIVE: To describe the course of depression in a patient with hepatolenticular degeneration (Wilson's disease). CLINICAL PICTURE: A 21-year-old male with hepatolenticular degeneration is described in whom depression was the earliest manifestation. Insomnia and psychomotor slowing were prominent. TREATMENT: The mood disturbance showed limited response to tricyclic antidepressants, mianserin, lithium augmentation and initial decoppering therapy. Introduction of the chelating agent tetrathiomolybdate was followed by normalisation of mood and improvement in non-psychiatric symptoms. OUTCOME: Three years after the disorder was first diagnosed the patient was euthymic and fully functional. CONCLUSIONS: Although hepatolenticular degeneration is rare, it commonly presents with psychiatric symptoms. It is important for psychiatrists to be aware of the condition and its psychiatric manifestations.

Adult↗
PubMed2003

[Determination of copper in serum and urine of hepatolenticular degeneration patient and their clinic meaning].

A method for the determination of copper in hepatolenticular degeneration patient's serum and urine by flame atomic absorption spectrometry was developed, and the meaning of clinic diagnosis and therapy for copper lever of hepatolenticular degeneration patient in serum and urine was discussed. The detection limit and linear range for copper are 7.3 x 10(-3) micrograms.mL-1 and 0.008-5 micrograms.mL-1 respectively. The relative standard deviation is less than 1.4% and the recovery is 94%-104%. The experimental results show that serum copper and urine copper contents are really important reference index for diagnosing the disease, with guiding significance for timely monitoring and controlling serum copper and urine copper excretion, especially in therapy, although they do not have separate diagnosing significance for hepatolenticular degeneration disease and have to be combined with clinic symptoms and other biochemical indexes to make a comprehensive diagnosis. This method has been applied to clinic diagnosis and therapy with satisfactory results.

Adolescent↗
PubMed1989

[A study on the pathogenesis of hepatolenticular degeneration using an in vitro model].

Hepatolenticular degeneration (HLD) as an autosomal recessively inherited disease has been known to be associated with by copper metabolic dysfunction. Its primary genetic defect is still not clear. The average copper content of HLD cells was found to be approximately threefold as much as that of normal cells in the authors previous studies. Cultured fibroblasts were used to serve as an in vitro model to investigate the primary molecular defects. The distribution of intracellular copper in the proteins of HLD cells were examined. The cell lysates were fractionated by gel chromatographic filtration. The copper concentration of the column fractions revealed that the copper binding character was altered in HLD cells. A decreased ratio of copper to proteins was observed in cytoplasmic proteins having a molecular weight greater than 300,000. There was more copper specifically bound to the lower molecular weight compounds in the HLD cells. The results of this laboratory technology suggested that this might serve as a method for establishing the early diagnosis of this disease.

Cells, Cultured↗
PubMedDate not supplied

Computed tomography in hepatolenticular degeneration (Wilson's disease).

Fifteen cases of hepatolenticular degeneration have been studied by means of computerized cranial tomography (CT). The common abnormalities were hypodense areas in the regions of the basal ganglia, in 9 cases; ventricular dilatation, in 7 cases; cortical atrophy, in 5 cases and brain-stem atrophy, in 4 cases. CT abnormalities were most common and most marked in patients with neurological presentations, but 1 of 3 asymptomatic patients discovered by the genetic screening of the affected family had hypodense areas in bilateral lenticular nuclei.

Atrophy↗