Childhood onset of Wilson's disease

diplomski rad

• Naslov: Childhood onset of Wilson's disease : a case report
• Autor: Vilim Kalamar
• Mentor: Jurica Vuković (mentor)
• Član povjerenstva: Duška Tješić-Drinković (predsjednik povjerenstva)
• Član povjerenstva: Marija Jelušić (član povjerenstva)
• Član povjerenstva: Jurica Vuković (član povjerenstva)
• Ustanova koja je dodijelila akademski / stručni stupanj: Sveučilište u Zagrebu; Medicinski fakultet; (KATEDRA ZA PEDIJATRIJU); Zagreb
• Datum i država obrane: 2014-07-15, Hrvatska
• Znanstveno / umjetničko područje, polje i grana: BIOMEDICINA I ZDRAVSTVO; Kliničke medicinske znanosti; Pedijatrija

Sažetak

Wilson’s disease is a rare genetic disease that can present very early in life as
a clinically non-specific illness with abnormal biochemical tests to life-threatening
cirrhosis, liver failure and irreversible neurological deficits. Diagnosis can be
challenging if symptoms are minimal. Wilson’s disease can range from a relatively
mild disease if strict adherence to medications is maintained to a very difficult
disease that requires liver transplantation as the only option for a normal life. I have
analyzed the cases of three patients. Patient 1 initially presented with hepatic lesions
at age sixteen. This was the first step in clinical workup that eventually led to his
diagnosis of Wilson’s disease. He has had a difficult course and has recently been
placed on the liver transplantation list. Patient 2 presented with deranged liver
transaminases, decreased serum copper and decreased ceruloplasmin while
hospitalized with mononucleosis at the age of 10. Patient 3 is the older sister of
patient 2. At age seventeen, she presented with fatigue, leg swelling and absence of
menstruation for five months at the time of initial hospitalization.

• Ključne riječi: Hepatolenticular Degeneration
• Jezik: engleski
• URN:NBN: urn:nbn:hr:105:142560
• Studijski program: Naziv: Medicina (na engleskom jeziku); Vrsta studija: sveučilišni; Stupanj studija: integrirani preddiplomski i diplomski; Akademski / stručni naziv: doktor/doktorica medicine (dr. med.)
• Vrsta resursa: Tekst
• Način izrade datoteke: Izvorno digitalna
• Prava pristupa: Otvoreni pristup
• Datum i vrijeme pohrane: 2015-11-18 08:51:45