Atipični hemolitičko-uremijski sindrom

master's thesis

• Title (english): Atypical hemolytic-uremic syndrome
• Author: Alan Horvat
• Mentor: Nikolina Bašić Jukić (mentor)
• Committee member: Željko Kaštelan (predsjednik povjerenstva)
• Committee member: Jasenka Markeljević (član povjerenstva)
• Committee member: Nikolina Bašić Jukić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Internal Medicine); Zagreb
• Defense date and country: 2019-09-10, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

Atipični hemolitičko – uremijski sidrom (aHUS) je rijetka bolest koja spada u skupinu trombotičnih mikroangiopatija. Obilježen je trijasom simptoma: mikroangiopatskom hemolitičkom anemijom, trombocitopenijom i zatajenjem bubrega. Napredovanjem genetike i imunologije, aHUS je povezan s poremećajima alternativnog puta (AP) komplementa i to najčešće regulatornih proteina kao što su komplement faktor H (CFH), faktor I (CFI) i sl. Osim poremećaja komplementa postoje razni okidači s kojima se povezuje aHUS. Klinička slika se razlikuje ovisno o etiopatogenezi bolesti. Neki genetski poremećaji su skloniji bržoj progresiji zatajenja bubrega. Transplantacija bubrega je terapija izbora za pacijente sa zatajenjem bubrega, no u aHUS-a česta je ponovna pojava bolesti i odbacivanje presatka. Dolaskom ekulizumaba na tržište stvorila se nova terapijska opcija za tu skupinu bolesnika. Ekulizumab je monoklonalno protutijelo protiv C5 komponente komplementa. Njegovim djelovanjem sprječava se dovršavanje kaskade aktivacije komplementa i otpuštanje tvari koje oštećuju bubreg. Na KBC-u Zagreb zabilježen je slučaj transplantirane 51 godišnje žene s dijagnozom aHUS-a i potvrđenim mutacijama.

Abstract (english)

Atypical hemolytic – uremic syndrome (aHUS) is a rare disease from thrombotic microangiopathies group. It is clinicali presented as a characteristic trias of symptoms: microangiopathic hemolytic anemia, thrombocytopenia and renal impairment. With recent advances in genetics and imunology, aHUS has been associeted with defects of alternative pathway of complement, mostly in regulatory proteins such as complement factor H, complement factor I, etc. Except defects of complement system, there are different triggers associated with development of aHUS. Depending of the etiopathogenic background of the illness there are differencies in clinical presentation. Some genetic dissorders are prone to faster progression of kidney failure. Kidney transplantation is the therapy of choice in patients with kidney failure, but patients with aHUS often have relapses of primary disease and graft rejection. When eculizumab was introduced it stared to present new therapeutic posibility. Eculizumab is a monoclonal antibody aginst C5 component of coplement. It prevents finishing of a complement cascade and further damaging of kidne tissue. A case of aHUS with confirmed mutations was noted in the Hospital University Center Zagreb.

• Keywords: aHUS; komplement; transplatacija bubrega; ekulizumab
• Keywords (english): aHUS; complement; kidney transplantation; eculizumab
• Language: croatian
• URN:NBN: urn:nbn:hr:105:114935
• 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: 2020-03-06 11:51:34