Kriteriji za postavljanje dijagnoze Wilsonove bolesti u pedijatrijskih bolesnika

master's thesis

• Title (english): Criteria for diagnosing Wilson's disease in pediatric patients
• Author: Iva Petrak
• Mentor: Jurica Vuković (mentor)
• Committee member: Irena Senečić-Čala (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Jurica Vuković (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2015-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Wilsonova bolest je rijetka autosomno recesivna nasljedna bolest uzrokovana mutacijom ATP7B gena. Prevalencija bolesti u općoj populaciji iznosi 1/30000. Mutacije dovode do poremećaja metabolizma bakra i nakupljanja bakra u različitim organima, ali najviše u jetri i neurološkom sustavu uzrokujući različite jetrene i neuropsihijatrijske kliničke prezentacije. Bolest se uglavnom prezentira u djece starije od 3 godine, ali može se javiti i u mlađih pacijenata ili pak u odrasloj dobi. Spektar simptoma WB uključuje blage simptome, koji se mogu tretirati različitim lijekovima, do vrlo teških oblika koji zahtijevaju transplantaciju jetre. Neki su pak slučajevi asimptomatični, tako da se bolest otkriva slučajno kada se otkriju poremećene jetrene funkcije. Ako su simptomi minimalni i nejasni, dijagnoza bolesti može biti pravi izazov. Dijagnostički testovi koji se provode u svrhu otkrivanja i potvrđivanja bolesti su biokemijski jetreni testovi, razina serumskog ceruloplazmina, razina bakra u serumu, ekskrecija bakra urinom i ekskrecija bakra urinom nakon penicilaminskog testa, koncentracija bakra u parenhimu jetre, biopsija jetre, neurološki nalaz, genetske analize. Wilsonova je bolest letalna ako se ne liječi, stoga je vrlo važno otkriti bolest kako bi se što ranije počelo s terapijom. Neki od lijekova koji se primjenjuju su D-penicilamin, trientini, cink i tetratiomolibdat.

Abstract (english)

Wilson's disease is a rare autosomal recessive genetic disease, caused by mutations in ATP7B gene, with a prevalence of 1 in 30000 in the general population. These mutations leads to copper metabolism disorder and copper accumulation in various organs but mostly in liver and neurological system, causing hepatic and neuropsychiatric presentations. The disease usually presents in children after the age of 3, but it can present in younger patients and even in adults. Symptoms of Wilson's disease can range from mild, which can be treated with medications, to a very difficult disease that requires liver transplantation. Some cases are asymptomatic, so the disease is discovered incidentally when abnormal liver function tests are found. If symptoms are minimal, the diagnosis can be very challenging. A diagnostic tests that are performing in order to detect Wilsons's disease are biochemical liver tests, serum ceruloplasmin level, serum copper, urinary copper excretion and urinary copper excretion after penicillamine challenge test, hepatic parenchymal copper concentration, liver biopsy findings, neurologic findings, and genetic studies. Wilson's disease is fatal, but treatable, so it is very important to diagnose the disease in order to initiate appropriate treatment. Some of medications are D-penicillamine, trientine, zinc and tetrathiomolybdate.

• Keywords: Wilsonova bolest; metabolizam bakra; poremećena funkcija jetre; koncentracija bakra
• Keywords (english): Wilson's disease; copper metabolism; abnormal liver function; copper concentration
• Language: croatian
• URN:NBN: urn:nbn:hr:105:621101
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2016-03-30 10:42:21