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master's thesis
Policistična bolest bubrega
Zagreb: University of Zagreb, School of Medicine, 2023. urn:nbn:hr:105:333371
Kekez, Ivan
University of Zagreb
School of Medicine
Department of Internal Medicine

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

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Kekez, I. (2023). Policistična bolest bubrega (Master's thesis). Zagreb: University of Zagreb, School of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:333371

Kekez, Ivan. "Policistična bolest bubrega." Master's thesis, University of Zagreb, School of Medicine, 2023. https://urn.nsk.hr/urn:nbn:hr:105:333371

Kekez, Ivan. "Policistična bolest bubrega." Master's thesis, University of Zagreb, School of Medicine, 2023. https://urn.nsk.hr/urn:nbn:hr:105:333371

Kekez, I. (2023). 'Policistična bolest bubrega', Master's thesis, University of Zagreb, School of Medicine, accessed 05 November 2024, https://urn.nsk.hr/urn:nbn:hr:105:333371

Kekez I. Policistična bolest bubrega [Master's thesis]. Zagreb: University of Zagreb, School of Medicine; 2023 [cited 2024 November 05] Available at: https://urn.nsk.hr/urn:nbn:hr:105:333371

I. Kekez, "Policistična bolest bubrega", Master's thesis, University of Zagreb, School of Medicine, Zagreb, 2023. Available at: https://urn.nsk.hr/urn:nbn:hr:105:333371

Metadata
TitlePolicistična bolest bubrega
Title (english)Polycystic kidney disease
AuthorIvan Kekez
MentorSandra Karanović Štambuk (mentor)
Committee memberŽivka Dika (predsjednik povjerenstva)
Committee memberIvana Vuković Brinar (član povjerenstva)
Committee memberSandra Karanović Štambuk (član povjerenstva)
GranterUniversity of Zagreb
School of Medicine
(Department of Internal Medicine)
Zagreb
Defense date and country2023-07-13, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Abstract
Policistična bolest bubrega nasljedna je bolest bubrega obilježena brojnim cistama bubrega i ekstrarenalnim manifestacijama. Dijeli se na autosomno recesivnu te autosomno dominantnu. Potonja se javlja u odrasloj dobi i ujedno je najčešća bolest bubrega uopće te je prikazana u ovom radu. Karakteriziraju je mutacije u genima PKD1 i PKD2, odgovornim za nastanak proteina policistin 1 i policistin 2, čiji gubitak funkcije u konačnici dovodi do stvaranja cisti. Ciste kontinuirano rastu tijekom cijeloga života. Rezultat su masivni bubrezi s narušenom funkcijom. Prvi simptomi javljaju se između 30. i 40. godine života kada ciste dosegnu veličinu koja narušava morfologiju i funkciju bubrega. Bolovi, arterijska hipertenzija, hematurija, nefrolitijaza i učestale urinarne infekcije glavni su simptomi u oboljelih. Konačan ishod bolesti je gubitak bubrežne funkcije do određenog stadija ili terminalno bubrežno zatajenje, što pak ovisi o težini bolesti. Osim bubrega zahvaćeni mogu biti i drugi organi. Jetra je nakon bubrega druga najčešća lokacija na kojoj se javljaju ciste. Najteža komplikacija autosomno dominantne bolesti bubrega je ruptura intrakranijske aneurizme. Dijagnoza ove bolesti najčešće se postavlja vizualizacijom cisti putem ultrazvuka za kojeg postoje jasno definirani dijagnostički kriteriji te po potrebi magnetnom rezonancom i kompjuteriziranom tomografijom. U nejasnim situacijama radi se genetsko testiranje kojim se potvrđuje konačna dijagnoza. Za procjenu rizika progresije bolesti koriste se dvije klasifikacije: Mayo i PROPKD. Terapija je usmjerena na što dulje moguće očuvanje bubrežne funkcije što se postiže regulacijom krvnog tlaka, smanjenim unosom soli i povećanim unosom tekućine. Pacijenti pod rizikom za brzu progresiju bolesti postaju kandidati za terapiju tolvaptanom, jedinim lijekom koji je trenutačno odobren za liječenje policistične bolesti bubrega. Postoje i drugi lijekovi koje se nalaze u različitim fazama kliničkih istraživanja. U terminalnome stadiju bubrežnoga zatajenja jedina preostala terapijska opcija je nadomještanje bubrežne funkcije dijalizom i ukoliko je moguće, transplantacijom.
Abstract (english)
Polycystic kidney disease is an inherited kidney disease characterized by numerous kidney cysts accompanied by extrarenal manifestations. It can be divided into autosomal recesive and autosomal dominant polycystic kidney disease. The latter will be presented in this paper since it predominantly affects adults and is the most common inhereted kidney disease in general. In autosomal dominant polycistic kidney disease mutations of the PKD1 and PKD2 genes encoding for polycystin 1 and polycystin 2 lead to the formation of the cysts. Cysts grow continuously throughout life. The end result are massive kidneys with impaired renal function. The first symptoms appear between the age of 30 and 40 when the cysts reach a sufficient size that disrupts the morphology and function of the kidneys. Pain, arterial hypertension, hematuria, nephrolithiasis and frequent urinary infections are the main symptoms of the disease. The final outcome is the certain degree of renal function detorioration or end stage kidney disease, depending on the severity of the disease. Apart from the kidneys, other organs can also be affected. The liver is the second most common site of cysts. However the most serious complication of autosomal dominant kidney disease is the rupture of an intracranial aneurysm. The diagnosis of autosomal dominant kidney diseaseis made by cyst visualization via ultrasound, for which clearly defined diagnostic criteria exist. MRI and CT can also be used. In unclear situations, genetic testing is done to confirm the final diagnosis. Two prognostic tools are availabe: Mayo and PROPKD score. The therapy is aimed at preserving kidney function as long as possible, which is achieved by blood pressure regulation, reduced salt and increased fluid intake. Patients with risk for rapid disease progression are candidates for tolvaptan therapy which is currently the only approved drug for this disease. There are other drugs that are in various stages of clinical research. In the end stage of kidney disease, the remaining therapeutic option is renal replacement therapy, ideally kidney transplantation.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:105:333371
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2023-10-25 09:53:30