Policistična bolest bubrega

master's thesis

• Title (english): Polycystic kidney disease
• Author: Judita Lelas
• Mentor: Nikolina Bašić Jukić (mentor)
• Committee member: Ingrid Prkačin (predsjednik povjerenstva)
• Committee member: Marko Jakopović (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: 2017-09-12, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

Policistična je bolest bubrega genetski poremećaj kod kojeg se u bubrezima razvijaju i rastu ciste. Zbog cistama uvećanih bubrega, onemogućena je njihova odgovarajuća funkcija što u konačnici dovodi do zatajenja bubrega, a samim time i do potrebe za nadomještanjem bubrežne funkcije dijalizom ili transplantacijom bubrega. Autosomna dominantna policistična bolest bubrega je dominantno nasljedni poremećaj koji karakterizira cistična dilatacija svih dijelova nefrona. Pored cista u bubrezima, one se mogu pojaviti i u jetri, gušterači i drugim organima. Autosomno recesivna policistična bolest bubrega je recesivno nasljedni poremećaj koji karakterizira cistična dilatacija sabirnih kanalića bubrega i kongenitalna jetrena fibroza. Rana dijagnoza asimptomatskih osoba s policističnom bolesti bubrega nudi mogućnost maksimalne preventivne skrbi kao što je stroga kontrola krvnog tlaka, nadzor nad ekstrarenalnim manifestacijama (npr. kongenitalna jetrena fibroza, kardiovaskularne bolesti), izbjegavanje potencijalnih prehrambenih i životnih faktora progresije bolesti i mogućnost prilagodbe terapije ovisno o stupnju bolesti. Sve intervencije kod policistične bolesti bubrega odgađaju dijalizu ili transplantaciju bubrega i time poboljšavaju kvalitetu života bolesnika.

Abstract (english)

Polycystic kidney disease is a genetic disorder in which abnormal cysts develop and grow in the kidneys.The kidneys become enlarged with multiple cysts that interfere with normal kidney function. This can sometimes lead to kidney failure and the need for dialysis or kidney transplantation. Autosomal dominant polycystic kidney disease is a dominantly inherited disorder characterized by cystic dilatations in all parts of the nephron. Cysts are also common in the liver, pancreas, and other organs. Autosomal recessive polycystic kidney disease is a recessively inherited disorder characterized by cystic dilations of the renal collecting ducts and congenital hepatic fibrosis. Early diagnosis of asymptomatic individuals with polycystic kidney disease currently offers the opportunity for maximal preemptive care such as tight blood pressure control, close surveillance of extrarenal manifestations (eg. congenital hepatic fibrosis, cardiovascular disease), avoidance of potential dietary and lifestyle progression factors and targeted disease-specific therapies. Any interventions in polycystic kidney disease that delay dialysis or kidney transplantation improve the quality of life.

• Keywords: nasljedni poremećaj; ciste; bubrezi; kongenitalna jetrena fibroza; krvni tlak
• Keywords (english): genetic disorder; cysts; kidneys; congenital hepatic fibrosis; blood pressure
• Language: croatian
• URN:NBN: urn:nbn:hr:105:255307
• 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: 2017-10-30 12:53:29