Conţinutul numărului revistei |
Articolul precedent |
Articolul urmator |
920 32 |
Ultima descărcare din IBN: 2024-03-12 15:21 |
SM ISO690:2012 TOFAN-SCUTARU, Liudmila, DUMBRAVA, Vlada-Tatiana, RĂILEANU, Ludmila, ŢURCANU, Adela, MOSCALU, Iurie, OUŞ-CEBOTAR, Mariana. Boala Wilson, stare heterozigotă. Caz clinic. In: Sănătate Publică, Economie şi Management în Medicină , 2014, nr. 5(56), pp. 92-97. ISSN 1729-8687. |
EXPORT metadate: Google Scholar Crossref CERIF DataCite Dublin Core |
Sănătate Publică, Economie şi Management în Medicină | ||||||
Numărul 5(56) / 2014 / ISSN 1729-8687 /ISSNe 2587-3873 | ||||||
|
||||||
Pag. 92-97 | ||||||
|
||||||
Descarcă PDF | ||||||
Rezumat | ||||||
Wilson’s disease is an autosomal-recessive disorder, caused by mutations in ATP7B gene encoding a copper transporter ATPase, as a result leading to reduced biliary excretion of copper and storage of vital organs.Disease occurs in homozygous (about 1% of the population) and among heterozygous rarely meets. This article presents a relevant clinical case of Wilson’s disease, heterozygous state. It revealed the presence of severe liver disease with cirrhosis development and neurological damage with clinical and paraclinical improvement of patient status on the background treatment. The patient requires continued therapy, supervision and monitoring dynamic |
||||||
Cuvinte-cheie hepatolenticular degeneration, copper metabolism, Wilson’s disease |
||||||
|
DataCite XML Export
<?xml version='1.0' encoding='utf-8'?> <resource xmlns:xsi='http://www.w3.org/2001/XMLSchema-instance' xmlns='http://datacite.org/schema/kernel-3' xsi:schemaLocation='http://datacite.org/schema/kernel-3 http://schema.datacite.org/meta/kernel-3/metadata.xsd'> <creators> <creator> <creatorName>Tofan-Scutaru, L.G.</creatorName> <affiliation>Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“, Moldova, Republica</affiliation> </creator> <creator> <creatorName>Dumbrava, V.A.</creatorName> <affiliation>Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“, Moldova, Republica</affiliation> </creator> <creator> <creatorName>Răileanu, L.</creatorName> <affiliation>Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“, Moldova, Republica</affiliation> </creator> <creator> <creatorName>Ţurcanu, A.I.</creatorName> <affiliation>Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“, Moldova, Republica</affiliation> </creator> <creator> <creatorName>Moscalu, I.D.</creatorName> <affiliation>Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“, Moldova, Republica</affiliation> </creator> <creator> <creatorName>Ouş-Cebotar, M.</creatorName> <affiliation>IMSP Spitalul Clinic Republican „Timofei Moșneaga”, Moldova, Republica</affiliation> </creator> </creators> <titles> <title xml:lang='ro'>Boala Wilson, stare heterozigotă. Caz clinic</title> </titles> <publisher>Instrumentul Bibliometric National</publisher> <publicationYear>2014</publicationYear> <relatedIdentifier relatedIdentifierType='ISSN' relationType='IsPartOf'>1729-8687</relatedIdentifier> <subjects> <subject>hepatolenticular degeneration</subject> <subject>Wilson’s disease</subject> <subject>copper metabolism</subject> </subjects> <dates> <date dateType='Issued'>2014-10-31</date> </dates> <resourceType resourceTypeGeneral='Text'>Journal article</resourceType> <descriptions> <description xml:lang='ru' descriptionType='Abstract'><p><em>Wilson’s disease is an autosomal-recessive disorder, caused by mutations in ATP7B gene encoding a copper transporter ATPase, as a result leading to reduced biliary excretion of copper and storage of vital organs.Disease occurs in homozygous (about 1% of the population) and among heterozygous rarely meets. This article presents a relevant clinical case of Wilson’s disease, heterozygous state. It revealed the presence of severe liver disease with cirrhosis development and neurological damage with clinical and paraclinical improvement of patient status on the background treatment. The patient requires continued therapy, supervision and monitoring dynamic</em></p></description> <description xml:lang='ru' descriptionType='Abstract'><p><em>Болезнь Вильсона является аутосомно-рецессивной патологией, вызванной мутацией гена </em><em>ATP</em><em>7</em><em>B</em><em>, кодирующего АТФ-азный транспортер меди, в результате мутация приводит к уменьшению экскреции меди с желчью и накоплению её в жизненно важных органах. Эта болезнь встречается у гомозиготных (около 1% населения), а среди гетерозиготных встречается редко. Данная статья представляет собой клинический случай, который описывает болезнь Вильсона, гетерозиготное состояние. Показано наличие тяжелой патологии печени с развитием цирроза печени и неврологических повреждений, с клиническими и параклиническими улучшениями состояния пациентки на фоне лечения. Пациентка нуждается в продолжении лечения и мониторинг состояния в динамике.</em></p></description> </descriptions> <formats> <format>application/pdf</format> </formats> </resource>