Hepatolenticular degeneration: diagnostic difficulties (practical experience)

The article deals with severe hereditary disease - hepatolenticular degeneration (Wilson - Konovalov disease). Hepatolenticular degeneration is a monogenic autosomal recessive genetic disorder. Pathogenetically, it is a genetic disorder of copper metabolism when copper accumulates in excessive amoun...

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Autores principales:	A. V. Ovchinnikov, V. V. Shprakh
Formato:	article
Lenguaje:	RU
Publicado:	Scientific Сentre for Family Health and Human Reproduction Problems 2016
Materias:	hepatolenticular degeneration clinic Science Q
Acceso en línea:	https://doaj.org/article/d3b07cb051804993a2da790aeddbb175
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spelling	oai:doaj.org-article:d3b07cb051804993a2da790aeddbb1752021-11-23T06:14:36ZHepatolenticular degeneration: diagnostic difficulties (practical experience)2541-94202587-959610.12737/23424https://doaj.org/article/d3b07cb051804993a2da790aeddbb1752016-09-01T00:00:00Zhttps://www.actabiomedica.ru/jour/article/view/308https://doaj.org/toc/2541-9420https://doaj.org/toc/2587-9596The article deals with severe hereditary disease - hepatolenticular degeneration (Wilson - Konovalov disease). Hepatolenticular degeneration is a monogenic autosomal recessive genetic disorder. Pathogenetically, it is a genetic disorder of copper metabolism when copper accumulates in excessive amounts in target organs, primarily in the liver. More commonly it manifests atyoung age and, when untreated, progresses rapidly to death. At the same time, hepatolenticular degeneration is one of a few of hereditary disease for which an effective pathogenetic therapy with copper-eliminating medications has been developed to reduce the amount of dietary copper and to remove its excess from the body. The risk factors of unfavourable type of decease development are: the severity of clinical aspects at the time of diagnostics in neurological stage, period of the delay of the copper-eliminate therapy prescription and the degree of mind disorder. The prognostication on hepatolenticular degeneration depends on the duration of the decease, time of the therapy beginning and the compliance to it. We report about two clinical observations of hepatolenticular degeneration, demonstrating the necessity to use the full complex of clinical-laboratorial and instrumental analysis in all cases of developing motor extrapyramidal defects, combined with psychiatric disorders and pathology of internal organs. This work proved that it is necessary to evaluate all symptoms in the dynamics of disease course and that symptoms signaling about pathology of copper metabolism should not be ignored, and paying attention only to some of the indicants is not advised.A. V. OvchinnikovV. V. ShprakhScientific Сentre for Family Health and Human Reproduction Problemsarticlehepatolenticular degenerationclinicScienceQRUActa Biomedica Scientifica, Vol 1, Iss 5, Pp 198-201 (2016)
institution	DOAJ
collection	DOAJ
language	RU
topic	hepatolenticular degeneration clinic Science Q
spellingShingle	hepatolenticular degeneration clinic Science Q A. V. Ovchinnikov V. V. Shprakh Hepatolenticular degeneration: diagnostic difficulties (practical experience)
description	The article deals with severe hereditary disease - hepatolenticular degeneration (Wilson - Konovalov disease). Hepatolenticular degeneration is a monogenic autosomal recessive genetic disorder. Pathogenetically, it is a genetic disorder of copper metabolism when copper accumulates in excessive amounts in target organs, primarily in the liver. More commonly it manifests atyoung age and, when untreated, progresses rapidly to death. At the same time, hepatolenticular degeneration is one of a few of hereditary disease for which an effective pathogenetic therapy with copper-eliminating medications has been developed to reduce the amount of dietary copper and to remove its excess from the body. The risk factors of unfavourable type of decease development are: the severity of clinical aspects at the time of diagnostics in neurological stage, period of the delay of the copper-eliminate therapy prescription and the degree of mind disorder. The prognostication on hepatolenticular degeneration depends on the duration of the decease, time of the therapy beginning and the compliance to it. We report about two clinical observations of hepatolenticular degeneration, demonstrating the necessity to use the full complex of clinical-laboratorial and instrumental analysis in all cases of developing motor extrapyramidal defects, combined with psychiatric disorders and pathology of internal organs. This work proved that it is necessary to evaluate all symptoms in the dynamics of disease course and that symptoms signaling about pathology of copper metabolism should not be ignored, and paying attention only to some of the indicants is not advised.
format	article
author	A. V. Ovchinnikov V. V. Shprakh
author_facet	A. V. Ovchinnikov V. V. Shprakh
author_sort	A. V. Ovchinnikov
title	Hepatolenticular degeneration: diagnostic difficulties (practical experience)
title_short	Hepatolenticular degeneration: diagnostic difficulties (practical experience)
title_full	Hepatolenticular degeneration: diagnostic difficulties (practical experience)
title_fullStr	Hepatolenticular degeneration: diagnostic difficulties (practical experience)
title_full_unstemmed	Hepatolenticular degeneration: diagnostic difficulties (practical experience)
title_sort	hepatolenticular degeneration: diagnostic difficulties (practical experience)
publisher	Scientific Сentre for Family Health and Human Reproduction Problems
publishDate	2016
url	https://doaj.org/article/d3b07cb051804993a2da790aeddbb175
work_keys_str_mv	AT avovchinnikov hepatolenticulardegenerationdiagnosticdifficultiespracticalexperience AT vvshprakh hepatolenticulardegenerationdiagnosticdifficultiespracticalexperience
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Hepatolenticular degeneration: diagnostic difficulties (practical experience)

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