Renal transplantation and rare diseases

master's thesis

• Title (croatian): Transplantacija bubrega i rijetke bolesti
• Author: Tea Vukić
• 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: 2018-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

End-stage renal failure requires replacement of kidney function by different methods, the best of them being renal transplantation owing to significant survival advantage and better quality of life compared to the other renal replacement therapy methods. This is a case-series study that was done at the Department of Nephrology, Arterial Hypertension, Dialysis and Renal Transplantation at University Hospital Centre Zagreb where we tried to demonstrate correlation between renal transplantation and influence of rare diseases on post-transplantation period. In this study, seven patients with rare diseases were included, all of them being transplanted and treated for primary disease. Rare diseases and their effects on kidney function that are discussed in this study are Primary hyperoxaluria type I, Fabry disease, Atypical haemolytic-uremic syndrome, Tuberous Sclerosis Complex, Turner syndrome and Dandy-Walker syndrome. Four percent of people on renal replacement therapy in Croatia have idiopathic chronic kidney disease, and high proportion is administered under the diagnosis of chronic glomerulonephritis, diabetic nephropathy and nephroangiosclerosis. It is probable that some of these patients have rare diseases that are not diagnosed and are responsible for graft failure in post-transplantation period due to untreated primary disease. Screening for rare diseases in pre-transplantation period would improve overall outcome of transplantation in these patients. This study emphasizes the importance of early diagnosis and treatment of rare disease and their effect on post-transplantation period.

Abstract (croatian)

Završni stadij kronične bubrežne bolesti zahtijeva liječenje nadomještanjem bubrežne funkcije različitim metodama, od kojih je najbolja transplantacija bubrega zbog značajno više stope preživljavanja i kvalitete života u usporedbi s drugim metodama nadomještanja bubrežne funkcije. Ovo istraživanje kliničkih slučajeva je provedeno na Zavodu za nefrologiju, arterijsku hipertenziju, dijalizu i transplantaciju bubrega Kliničkog bolničkog centra Zagreb u kojem pokazujemo povezanost između transplantacije bubrega i utjecaja rijetkih bolesti na period poslije transplantacije. U ovo istraživanje je uključeno sedam bolesnika s rijetkim bolestima nakon transplantacije. Rijetke bolesti i njihov utjecaj na bubreg koje se ovdje spominju su primarna hiperoksalurija tip I, Fabryjeva bolest, atipični hemolitičko uremijski sindrom, tuberozna skleroza, Turnerov sindrom i Dandy-Walkerov sindrom. Četiri posto bolesnika liječenih nadomještajem bubrežne funkcije u Hrvatskoj ima idiopatsku kroničnu bolest bubrega, a visoki udio se vodi pod dijagnozom kroničnog glomerulonefritisa bez biopsije, dijabetičke nefropatije i nefroangioskleroze. Vjerojatno je da neki od ovih bolesnika imaju rijetke bolesti koje nisu dijagnosticirane, a odgovorne su za bubrežno zatajenje u periodu nakon transplantacije. Testovi probira na rijetke bolesti u predtransplantacijskom periodu bi poboljšali cjelokupni ishod transplantacije kod ovih bolesnika. Ovo istraživanje naglašava važnost ranog otkrića rijetke bolesti, liječenja i utjecaja te bolesti na posttransplantacijski period.

• Keywords: renal transplantation; rare disease; renal replacement therapy; posttransplantation period
• Keywords (croatian): transplantacija bubrega; rijetke bolesti; nadomjesno bubrežno liječenje; posttransplantacijski period
• Language: english
• URN:NBN: urn:nbn:hr:105:280989
• Study programme: Title: Medicine (in English language); 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: 2019-03-29 09:59:16