scholarly journals Hepatolenticular Degeneration

2020 ◽  
Author(s):  
Keyword(s):  
Hepatolenticular Degeneration

Wilson Disease

1996 ◽  
Vol 17 (12) ◽  
pp. 448-448
Author(s):  
Philip O. Ozuah
Keyword(s):  
Biliary Excretion ◽  
Wilson Disease ◽  
Autosomal Recessive ◽  
Copper Metabolism ◽  
The Body ◽  
Hepatolenticular Degeneration ◽  
Dietary Copper ◽  
Hepatic Copper ◽  
Excess Copper ◽  
Excessive Accumulation

Wilson disease (hepatolenticular degeneration) is an autosomal recessive, inherited disorder of copper metabolism resulting in excessive accumulation of copper in the liver, brain, and other organs of the body. The manifestations of the disease are related directly to this accumulation of copper. Copper homeostasis normally is a product of the balance between intestinal absorption of dietary copper and hepatic biliary excretion of excess copper. In Wilson disease, incorporation of hepatic copper into ceruloplasmin is defective and excretion of copper in the bile is reduced. A low level of ceruloplasmin, which until a few years ago was erroneously considered to be the basis for the disease, is a consequence of the underlying metabolic defect.

Osteoarthropathy of hepatolenticular degeneration

2009 ◽  
Vol 57 (6) ◽  
pp. 481-487 ◽  
Author(s):  
H. M. Canelas ◽  
N. Carvalho ◽  
M. Scaff ◽  
A. Vitule ◽  
E. R. Barbosa ◽  
...  
Keyword(s):  
Hepatolenticular Degeneration

scholarly journals Hepatolenticular Degeneration in Children

Doctor Ru ◽  
2020 ◽  
Vol 19 (10) ◽  
pp. 52-56
Author(s):  
А.R. Reisis ◽  
◽  
Keyword(s):  
Copper Metabolism ◽  
Favourable Outcome ◽  
Urine Specimen ◽  
Hepatolenticular Degeneration ◽  
Genetic Tests ◽  
Nonalcoholic Fatty Liver ◽  
Early Disease Detection ◽  
Hepatic Involvement ◽  
Organ Failures ◽  
Key Aspects

Objective: to present the current situation with hepatolenticular degeneration (HLD) in children and to study clinical and laboratory manifestations, prevalence and significance of the disease in children with unexplained hepatitis (UH). Key Points. HLD, genetic copper metabolism imbalance, is a serious condition masked by UH. There is practically no information on prevalence of HLD in children; and diagnostic capabilities are still a matter of arguments. We have reviewed literature sources on HLD in children and examined 103 children aged 3 to 16 years diagnosed with UH (follow-up period of 3 to 7 years). Two cases have been discussed in detail. In addition to routine clinical examinations, we have tested copper metabolism in blood and 24-hour urine specimen. Genetic tests were conducted to find АТР7В mutations (12 to 14 alleles were examined). Conclusion. HLD in children is not an uncommon cause of hepatic involvement; it affects 11–12% children with UH. Diagnostics is challenging and achieved with a number of tests such as measurement of copper levels in 24-hour urine specimen and genetic tests for HLD with exclusion of any other known and common causes of hepatic conditions (viral, nonalcoholic fatty liver disease, autoimmune hepatitis, primary sclerosing cholangitis associated with inflamed intestine, etc.). Key aspects in prevention of severe organ failures and death in children with HLD are high awareness and early disease detection with timely therapy initiation and favourable outcome. Of the utmost importance in life-long therapy is compliance associated with the level of education and attention from family members. Keywords: hepatolenticular degeneration, children, diagnosis, therapy, outcomes.

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