27 research outputs found
The spectrum of liver presentation in wilson's disease: a literature review
No full textIntroduction. Wilson's disease represents one of the genetic diseases that has lifelong treatment, which significantly improved the quality of life for patients and reduced the disabling complications associated with the lack of an early diagnosis.
Material and methods. A structured search was performed in PubMed and HINARI, using English search terms: "Wilson's disease", "acute liver failure", "cirrhosis", "acute Wilsonian hepatitis", "hepatic manifestation", "chronic liver disease", "asymptomatic Wilson's disease", and "active chronic hepatitis".
Results. Wilson's disease can occur at any age and can mimic the presence of other chronic liver diseases. The hepatic expression is highly variable, ranging from asymptomatic presentation to severe liver diseases, such as decompensated cirrhosis and acute liver failure. Any patient with transaminitis and abnormal parameters of cooper metabolism should be comprehensively and carefully evaluated to identify Wilson's disease early and to prevent misdiagnosis or unnecessary therapies. Confirmation of the diagnosis should not exclude the co-existence of other liver diseases.
Conclusions. The use of validated and adapted scores for Wilson's disease may facilitate diagnosis, but they cannot be used in acute liver failure. Considering that WD presents itself with great phenotypic diversity and can evolve under the mask of other pathologies, it is necessary to carry out a careful differential diagnosis
LIVER FIBROSIS AND METHODS OF ASSESSMENT IN LIGHT OF CHRONIC HEPATITIS DELTA
No full textObjectives. Liver fibrosis is a wound healing response that causes accumulation of collagen and other extracellular proteins after an insult caused to liver or during a chronic liver disease. When left untreated, it may result in liver cirrhosis and portal hypertension, hepatic encephalopathy, liver failure, and an increased risk of hepatocellular carcinoma, which can ultimately cause organ failure and death.
Material and methods. Research articles from various sources were reviewed and a sum of different methods for non-invasive assessment liver assessment were picked to put forth a constructive composite review.
Results. Only two scores i.e., Baseline-event-anticipation score and Delta Fibrosis Score were found to show applicability in assessing liver fibrosis caused by chronic hepatitis delta virus infection, however, further studies are required.
Conclusion. Although a few non-invasive scoring methods, for assessment of liver fibrosis caused due to chronic hepatitis delta virus infection, have been put forth over the past few years, enough research and data collection is yet to be done for proper validation and use. Even though liver biopsy still remains the gold standard for assessing liver fibrosis, its invasive nature does not make it feasible for all patients
Hepatita cronica delta: de la descoperire la tratamente noi
No full textNicolae TestemitanuState University of Medicine and Pharmacy of the Republic of MoldovaIntroduction. Hepatitis delta virus (HDV) is a small, defective RNA virus that is related more to plant viroids than to other human pathogens. Material and methods. Nearly 50 research articles from various sources were reviewed and a comprehensive analysis was done regarding various parameters concerning HDV.Articles published over a period of 30 years were selected based on their experimental and statistical relevance to HDV. This review gives a brief insight into epidemio-logy, genetics, clinical evolution and treatment of chronic hepatitis delta. Results. Chronic hepatitis delta remains a major cause of morbidity in Eastern European countries and the Mediterranean region. At the same time, there is a resurgence of HBV and HDV infection in young people (under the age of 50) in Western Europe, as a conse-quence of the intra-familial and sexual mode of acquisition among immigrants from Eastern Europe, the Mediterranean region and from countries of the former Soviet Union, Africa high burdenedregions of Asia and South America. Prevalence among IVDU was found to be higher especially in western european countries and other regions of low HDV prevalence. Chronic delta viral hepatitis is a dynamic, progressive process. A direct cytopathic pattern of liver tissue damage was also observed, especially in the presence of HDV geno-type 3. Chronic hepatitis D is reported to progress to cirrhosis and hepatocellular cancer, and this trend is greater the higher the level of HDV viremia at the time of presentation.Conclusions. Flaws in screening and on-time diagnosis still remain due to the insufficient research and data available. While still not classified as a carcinogen by IARC, our review ends up in support of the notion that HDV infection increases the chances and fastens the pathogenic processes leading to HCC.Introducere. Virusul hepaticdelta (VHD) este un virus ARN mic, defect, care este înrudit mai mult cu viroizii plantelor decât cu alți agenți patogeni umani. Material si metode. Au fost revizuite ciurca 50 de articole de cercetare din diverse surse și s-a făcut o analiză cuprinzătoare privind diferiți parametrii referitori la VHD. Articolele publicate pe o perioadă de 30 de ani au fost selectate pe baza relevanței lor experimentale și statistice pentru VHD. Această revizuire oferă o perspectivă succintă asupra epidemiologiei, geneticii, evoluției clinice și tratamentului Hepatitei cronice Delta. Rezultate. Hepatita cronică Delta rămâne o cauză majoră de morbiditate în țările est-europene și în regiunea mediteraneană. În același timp, există o reapariție a infecției cu VHB și VHD la tinerii (sub 50 de ani) din Europa de Vest, ca o consecință a modului de dobândire intra-familial și sexual în rândul imigranților din Europa de Est, regiunea mediteraneană și din țările din fosta Uniune Sovietică, Africa, regiunile puternic împovărate din Asia și America de Sud. Prevalența în rândul IVDU s-a dovedit a fi mai mare, în special în țările vest-europene și în alte regiuni cu prevalență scăzută a HDV. Hepatita cronică Delta este un proces dinamic, progresiv. De asemenea, s-a observat, un model citopatic direct de țesutul hepatic afectat, în special în prezența genotipului HDV 3. Se raportează că Hepatita cronică D progresează către ciroză și cancer hepatocelular, iar această tendință este mai mare, cu cât este mai mare nivelul de viremieVHD în momentul prezentării. Concluzii. Rămân în continuare imperfecțiuni în screening și în diagnosticarea la timp din cauza cercetărilor și datelor insuficiente disponibile. Deși încă nu este clasificat cașicancerigen de IARC, analiza noastră ajunge să susțină ideea, că infecția cu VHD crește șansele și accelerează procesele patogene, care conduc spre HCC
Фенотипическая и генотипическая диагностика болезни Вильсона: клинический случай
No full textSummary.
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.Rezumat.
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.Резюме.
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 Лей пцигская
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
Exchangeable copper - a new diagnostic indicator for Wilson's disease
No full textIntroduction. Wilson”s disease (WD) biochemical markers
continue to evolve. Classical tests have their own limits
(tab.1), and they are often insufficient to diagnose
or exclude WD. The free copper was proposed as a
diagnostic test, but it was showed a large overlapping of
this parameter between non-WD subjects and WD
patients. New biomarkers are being investigated.
Purpose. The paper aims to analyze the bibliographic
data on the new tools for diagnostic in WD, like
exchangeable copper (CuEXC).
Material and methods. An advanced search was performed
in the PubMed, and ScienceDirect databases, using the
search English terms: ”Wilson's disease”, ”diagnostic test”
and ”relative exchangeable copper”.
Results. CuEXC is a new validated method for the direct
determination of labile copper that can be correlated with
the toxic fraction of copper and used to monitor treatment
in Wilson patients. The relative exchangeable copper (REC) -
the ratio of CuEXC/total serum copper is the best
biomarker for the diagnosis of WD showing 100% sensitivity
and 100% specificity. Studies confirm that a REC value
>18.5% appears to be a highly discriminatory tool to
differentiate WD between controls, presymptomatic
patients, heterozygotes, and patients with non-Wilsonian
liver disease, in cirrhosis and cholestasis, both in adults and
in children. Family screening in asymptomatic subjects
observed that REC determination significantly differentiated
subjects non-WD from WD patients with a cutoff of 15%.
Conclusions. CuEXC proved a helpful contribution in starting quickly the treatment without waiting for genetic testing
results. Being a tool with high sensitivity and specificity, the determination of REC can be useful, reliable, rapid, and
easy to set up to confirm or exclude WD in both adults and children, in carriers or asymptomatic patients
Probleme actuale ale medicinei interne
No full textModeratori: Matcovschi Sergiu, dr. hab. şt. med., profesor universitar
Groppa Liliana, dr. hab. şt. med., profesor universitar
Botnaru Victor, dr. hab. şt. med., profesor universitar
Revenco Valeriu, dr. hab. şt. med., profesor universitar
Tcaciuc Eugen, dr. hab. şt. med., conferenţiar universitarCOMUNICĂRI ORALE
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8. Tocan Mihaela, Tocan-Musteața Alina. Definirea bolii wilson prin prisma
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9. Mustea Ecaterina, Berliba Elina, Turcanu Adela, Mustea Violeta,
Toaca Inesa, Peltec Angela. Tratamentul dislipidemiei la pacienții cu boala
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11. Maxian Irina, Coșciug Ion, Coleva Ecaterina, Doga Irlana, Gujva
Cristina, Schidan Maria. Maladia Fahr. Polimorfism clinichttps://drive.google.com/file/d/1VYcfXmRQCGFJJiFNpiYFSanhy54AstYc/vie
