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doctoral thesis
Asimetrični dimetilarginin u bubrežnoj varijanti Fabryjeve bolesti
Zagreb: University of Zagreb, Faculty of Pharmacy and Biochemistry, 2012. urn:nbn:hr:163:023179
Škrbec, Alen
University of Zagreb
Faculty of Pharmacy and Biochemistry

Institutional repository: Repository of Faculty of Pharmacy and Biochemistry University of Zagreb

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Škrbec, A. (2012). Asimetrični dimetilarginin u bubrežnoj varijanti Fabryjeve bolesti (Doctoral thesis). Zagreb: University of Zagreb, Faculty of Pharmacy and Biochemistry. Retrieved from https://urn.nsk.hr/urn:nbn:hr:163:023179

Škrbec, Alen. "Asimetrični dimetilarginin u bubrežnoj varijanti Fabryjeve bolesti." Doctoral thesis, University of Zagreb, Faculty of Pharmacy and Biochemistry, 2012. https://urn.nsk.hr/urn:nbn:hr:163:023179

Škrbec, Alen. "Asimetrični dimetilarginin u bubrežnoj varijanti Fabryjeve bolesti." Doctoral thesis, University of Zagreb, Faculty of Pharmacy and Biochemistry, 2012. https://urn.nsk.hr/urn:nbn:hr:163:023179

Škrbec, A. (2012). 'Asimetrični dimetilarginin u bubrežnoj varijanti Fabryjeve bolesti', Doctoral thesis, University of Zagreb, Faculty of Pharmacy and Biochemistry, accessed 26 November 2024, https://urn.nsk.hr/urn:nbn:hr:163:023179

Škrbec A. Asimetrični dimetilarginin u bubrežnoj varijanti Fabryjeve bolesti [Doctoral thesis]. Zagreb: University of Zagreb, Faculty of Pharmacy and Biochemistry; 2012 [cited 2024 November 26] Available at: https://urn.nsk.hr/urn:nbn:hr:163:023179

A. Škrbec, "Asimetrični dimetilarginin u bubrežnoj varijanti Fabryjeve bolesti", Doctoral thesis, University of Zagreb, Faculty of Pharmacy and Biochemistry, Zagreb, 2012. Available at: https://urn.nsk.hr/urn:nbn:hr:163:023179

Metadata
TitleAsimetrični dimetilarginin u bubrežnoj varijanti Fabryjeve bolesti
Title (english)Asymmetric dimethylarginine in renal variant of Fabry disease
AuthorAlen Škrbec
MentorKsenija Fumić (mentor)
Committee memberRoberta Petlevski (predsjednik povjerenstva)
Committee memberKsenija Fumić (član povjerenstva)
Committee memberIngeborg Barišić (član povjerenstva)
GranterUniversity of Zagreb
Faculty of Pharmacy and Biochemistry
Zagreb
Defense date and country2012-07-10, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Pharmacy
Medical Biochemistry
Universal decimal classification
(UDC)		615 - Pharmacology. Therapeutics. Toxicology
Abstract
Fabryjeva bolest je X-vezana nasljedna metabolička bolest nakupljanja uzrokovana smanjenom aktivnošću enzima α-galaktozidaze A. Posljednično tome dolazi do nakupljanja nerazgrađenog supstrata (globotriazilceramida) u endotelnim i glatkim mišićnim stanicama krvnih žila što dovodi do njihovog oštećenja. Dosadašnji rezultati pokazuju da samo nakupljeni supstrat nije jedini uzrok kasnijim kliničkim manifestacijama bolesti. Ovo istraživanje obuhvatilo je određivanje asimetričnog dimetilarginina (ADMA) kao važnog čimbenika u patologiji promjena endotela krvnih žila u skupini bolesnika s Fabryjevom bolešću, te koncentracija aminokiselina L-arginina, L-metionina i L-citrulina kao i njihovih međusobnih omjera s ADMA. Određivanjem koncentracije ADMA u predkliničkoj fazi i za vrijeme enzimske nadomjesne terapije, željeli smo ispitati da li postoji povezanost genotipa i fenotipa bolesnika s Fabryjevom bolešću s koncentracijama ADMA u serumu, te procjeniti moguću klinički primjenu koncentracije ADMA kao novi dijagnostički i prognostički pokazatelj oštećenja krvnih žila kod bolesnika s Fabryjevom bolesti. Rezultati pokazuju da ADMA ne može biti pouzdani marker za procjenu stanja bolesnika s Fabryjevom bolešću. Nadomjestaj L-arginina ili L-citrulina mogao bi biti dodatak ERT kao prevencija pogoršanja vaskulopatije zbog nedostatka L-arginina i posljedično tome bioraspoloživosti NO.
Abstract (english)
Fabry disease is X-linked inherited metabolic storage disease caused by reduced activity of the enzyme α-galactosidase. Consequently that leads to accumulation of substrate (globotriaosylceramide) in endothelial and smooth muscle cells of blood vessels and to their damage. Results so far show that only the accumulated substrate is not the only cause of subsequent clinical manifestations of disease. This research would include determining asymmetric dimethylarginine (ADMA) as an important factor in the pathology changes of the endothelium of blood vessels in the patients group with Fabry disease. By determining the concentration of ADMA in preclinical phase and during enzyme replacement therapy, we will examine whether there is an association of genotype and phenotype in patients with Fabry disease with aDMA concentrations in serum and evaluate the possible clinical application of the concentration of aDMA as a new diagnostic and prognostic marker of vascular damage in patients with Fabry disease. This study provides evidence that ADMA could not be reliable marker of vascular damage in patients with Fabry disease. Supplementation of L-arginine or L-citrulline could be add on treatment on ERT as prevention of vascular damage due to reduced biosintheses of L-arginine and availability of NO.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:163:023179
Study programmeTitle: Pharmacy and biochemistry
Study programme type: university
Study level: postgraduate
Academic / professional title: doktor znanosti (doktor znanosti)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2016-11-16 09:53:28