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SM ISO690:2012 CUMPĂTĂ, Veronica, ŢURCANU, Adela, TCACIUC, Eugen. Phenotypic and genotypic diagnosis of Wilson’s disease: a clinical case. In: Sănătate Publică, Economie şi Management în Medicină , 2022, nr. 2(93-S), pp. 246-251. ISSN 1729-8687. |
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Sănătate Publică, Economie şi Management în Medicină | ||||||
Numărul 2(93-S) / 2022 / ISSN 1729-8687 /ISSNe 2587-3873 | ||||||
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Wilson’s disease is a rare genetic disease determined by a mutation of the ATP7B gene, which leads to reduced biliary excretion of copper and its storage in various tissues. Although it is a monogenic disorder, the disease is characterized by extraordinary clinical and genetic diversity. The given article tells about a young man diagnosed with Wilson’s disease. The patient was evaluated according to international protocols: clinical, hematological, biochemical, ophthalmological, imaging, endoscopic and genetic. Thus, according to the results of all investigations, a Leipzig score ≥ 4 points was established, which is valid for a definite diagnosis of Wilson’s disease. The peculiarities of this clinical case are the early onset of the disease with primary manifestations of advanced liver disease, the delay in establishing the diagnosis, the compound heterozygous status, the low compliance of the patient, and the refusal to accept the presence of a genetic disease by the family. |
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Cuvinte-cheie Wilson’s disease, phenotype, genotype, compound heterozygous, Boala Wilson, fenotip, genotip, heterozigot compus, болезнь Вильсона, Фенотип, Генотип, компаунд-гетерозиготный |
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<?xml version='1.0' encoding='utf-8'?> <oai_dc:dc xmlns:dc='http://purl.org/dc/elements/1.1/' xmlns:oai_dc='http://www.openarchives.org/OAI/2.0/oai_dc/' xmlns:xsi='http://www.w3.org/2001/XMLSchema-instance' xsi:schemaLocation='http://www.openarchives.org/OAI/2.0/oai_dc/ http://www.openarchives.org/OAI/2.0/oai_dc.xsd'> <dc:creator>Cumpătă, V.</dc:creator> <dc:creator>Ţurcanu, A.I.</dc:creator> <dc:creator>Tcaciuc, E.M.</dc:creator> <dc:date>2022-12-28</dc:date> <dc:description xml:lang='en'><p>Wilson’s disease is a rare genetic disease determined by a mutation of the ATP7B gene, which leads to reduced biliary excretion of copper and its storage in various tissues. Although it is a monogenic disorder, the disease is characterized by extraordinary clinical and genetic diversity. The given article tells about a young man diagnosed with Wilson’s disease. The patient was evaluated according to international protocols: clinical, hematological, biochemical, ophthalmological, imaging, endoscopic and genetic. Thus, according to the results of all investigations, a Leipzig score ≥ 4 points was established, which is valid for a definite diagnosis of Wilson’s disease. The peculiarities of this clinical case are the early onset of the disease with primary manifestations of advanced liver disease, the delay in establishing the diagnosis, the compound heterozygous status, the low compliance of the patient, and the refusal to accept the presence of a genetic disease by the family.</p></dc:description> <dc:description xml:lang='ro'><p>Boala Wilson reprezinta o maladie genetica rară determinata de o mutația genei ATP7B, ce duce la reducerea excreției biliare a cuprului și depozitarea lui în diferite țesuturi. Deși, este o tulburare monogenică, boala se caracterizează printr-o diversitate clinică și genetică extraordinară. Articolul dat relatează despre un tânar diagnosticat cu boala Wilson. Bolnavul a fost evaluat conform protocoalelor internaționale: clinic, hematologic, biochimic, oftalmologic, imagistic, endoscopic și genetic. Astfel, conform rezultatelor tuturor investigațiilor s-a stabilit un scor Leipzig ≥ 4 puncte, ce este valabil pentru un diagnostic cert de boală Wilson. Particularitățile acestui caz clinic sunt debutul precoce a bolii cu manifestări primare de boală hepatică avansată, întârzierea stabilirii diagnosticului, statutul de heterozigot compus, complianța redusă a pacientului și refuzul de a accepta prezența unei boli genetice de către familie.</p></dc:description> <dc:description xml:lang='ru'><p>Болезнь Вильсона — редкое генетическое заболевание, определяемое мутацией гена ATP7B, что приводит к снижению экскреции меди с желчью и ее депонированию в различных тканях. Хотя это моногенное заболевание, заболевание характеризуется необычайным клиническим и генетическим разнообразием. В данной статье рассказывается о молодом человеке с диагнозом болезнь Вильсона. Пациент был оценен в соответствии с международными протоколами: клиническим, гематологическим, биохимическим, офтальмологическим, ультразвуковое исследование, эндоскопическим и генетическим. Таким образом, по результатам всех исследований была установлена Лейпцигская оценка ≥ 4 балла, что справедливо для достоверного диагноза болезни Вильсона. Особенностью данного клинического случая является раннее начало заболевания с первичными проявлениями запущенного заболевания печени, задержка в установлении диагноза, компаунд-гетерозиготный статус, низкая комплаентность больного и отказ принять наличие генетического заболевания. семьей.</p></dc:description> <dc:source>Sănătate Publică, Economie şi Management în Medicină 93-S (2) 246-251</dc:source> <dc:subject>Wilson’s disease</dc:subject> <dc:subject>phenotype</dc:subject> <dc:subject>genotype</dc:subject> <dc:subject>compound heterozygous</dc:subject> <dc:subject>Boala Wilson</dc:subject> <dc:subject>fenotip</dc:subject> <dc:subject>genotip</dc:subject> <dc:subject>heterozigot compus</dc:subject> <dc:subject>болезнь Вильсона</dc:subject> <dc:subject>Фенотип</dc:subject> <dc:subject>Генотип</dc:subject> <dc:subject>компаунд-гетерозиготный</dc:subject> <dc:title>Phenotypic and genotypic diagnosis of Wilson’s disease: a clinical case</dc:title> <dc:type>info:eu-repo/semantics/article</dc:type> </oai_dc:dc>