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doctoral thesis
Obilježja bolesnika s nefropatijom tankih glomerularnih bazalnih membrana udruženom s fokalnom segmentalnom glomerulosklerozom
Zagreb: University of Zagreb, School of Medicine, 2023. urn:nbn:hr:105:639661
Horaček, Matija
University of Zagreb
School of Medicine

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

Cite this document

Horaček, M. (2023). Obilježja bolesnika s nefropatijom tankih glomerularnih bazalnih membrana udruženom s fokalnom segmentalnom glomerulosklerozom (Doctoral thesis). Zagreb: University of Zagreb, School of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:639661

Horaček, Matija. "Obilježja bolesnika s nefropatijom tankih glomerularnih bazalnih membrana udruženom s fokalnom segmentalnom glomerulosklerozom." Doctoral thesis, University of Zagreb, School of Medicine, 2023. https://urn.nsk.hr/urn:nbn:hr:105:639661

Horaček, Matija. "Obilježja bolesnika s nefropatijom tankih glomerularnih bazalnih membrana udruženom s fokalnom segmentalnom glomerulosklerozom." Doctoral thesis, University of Zagreb, School of Medicine, 2023. https://urn.nsk.hr/urn:nbn:hr:105:639661

Horaček, M. (2023). 'Obilježja bolesnika s nefropatijom tankih glomerularnih bazalnih membrana udruženom s fokalnom segmentalnom glomerulosklerozom', Doctoral thesis, University of Zagreb, School of Medicine, accessed 29 April 2024, https://urn.nsk.hr/urn:nbn:hr:105:639661

Horaček M. Obilježja bolesnika s nefropatijom tankih glomerularnih bazalnih membrana udruženom s fokalnom segmentalnom glomerulosklerozom [Doctoral thesis]. Zagreb: University of Zagreb, School of Medicine; 2023 [cited 2024 April 29] Available at: https://urn.nsk.hr/urn:nbn:hr:105:639661

M. Horaček, "Obilježja bolesnika s nefropatijom tankih glomerularnih bazalnih membrana udruženom s fokalnom segmentalnom glomerulosklerozom", Doctoral thesis, University of Zagreb, School of Medicine, Zagreb, 2023. Available at: https://urn.nsk.hr/urn:nbn:hr:105:639661

Metadata
TitleObilježja bolesnika s nefropatijom tankih glomerularnih bazalnih membrana udruženom s fokalnom segmentalnom glomerulosklerozom
Title (english)Characteristics of patients with thin basement membrane nephropathy combined with focal segmental glomerulosclerosis
AuthorMatija Horaček
MentorDanica Galešić-Ljubanović (mentor)
Committee memberIvica Horvatić (predsjednik povjerenstva)
Committee memberStela Bulimbašić (član povjerenstva)
Committee memberMario Laganović (član povjerenstva)
GranterUniversity of Zagreb
School of Medicine
Zagreb
Defense date and country2023-09-11, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pathology
Universal decimal classification
(UDC)		616 - Pathology. Clinical medicine
Abstract
Svrha rada: Svrha ovog istraživanja je bila provesti sekvenciranje gena COL4A3, COL4A4 i COL4A5 NGS metodom u bolesnika s TBMN-om sa ili bez FSGS-a, a potom analizirati prikupljene genske, kliničke i histološke podatke i provesti genotip-fenotip korelaciju. Ispitanici i metode: Bolesnici su identificirani pretragom registra bubrežnih biopsija Odjela za nefropatologiju i elektronsku mikroskopiju Kliničke bolnice Dubrava te podijeljeni u dvije skupine: 1. bolesnici s TBMN-om i 2. bolesnici s FSGS-om i TBMN-om. Nakon identifikacije prikupljeni su svi dostupni klinički i patohistološki podaci, provedeno je mjerenje debljine GBM, a bolesnicima je uzet uzorak krvi za NGS. Dobiveni rezultati i prikupljeni podaci su analizirani te je provedena genotip-fenotip korelacija. Rezultati: Sekvenciranjem je u 52 % bolesnika nađena patogena varijanta, a u 10 % VUS. Bolesnici s FSGS-om i TBMN-om u odnosu na bolesnike samo s TBMN-om imaju statistički značajno izraženije kliničke simptome i znakove, morfološke promjene te komorbiditete. Nije nađena statistički značajna razlika u patogenosti i tipu varijante između skupine bolesnika s FSGS-om i TBMN-om i skupine s TBMN-om. Zaključak: Bolesnici s FSGS-om i TBMN-om u odnosu na bolesnike samo s TBMN-om imaju izraženije kliničke simptome i morfološke promjene na bioptičkim uzorcima.
Abstract (english)
Objective: The aim of this research was to perform sequencing of the COL4A3, COL4A4 and COL4A5 genes with NGS in patients with TBMN with or without FSGS, then to analyze the genetic, clinical and pathohistological data and perform genotype-phenotype correlation. Patients and methods: The patients were identified by searching the kidney biopsy register of the Department of Nephropathology and Electron Microscopy of Dubrava University Hospital and divided into two groups: 1. patients with TBMN and 2. patients with FSGS and TBMN. Patients' clinical and pathohistological data were collected, GBM thickness was measured, and a blood sample was taken for NGS. The results and collected data were analyzed and genotype-phenotype correlation was performed. Results: Sequencing detected a pathogenic variant in 52 % and VUS in 10 % of patients. Patients with FSGS and TBMN compared to patients with only TBMN have significantly more pronounced clinical symptoms and signs, morphological changes and comorbidities. No statistically significant difference was found in pathogenicity and variant type between the group of patients with FSGS and TBMN and the group with TBMN. Conclusion: Patients with FSGS and TBMN have more severe clinical course and morphological changes on biopsy samples than patients with only TBMN.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:105:639661
Study programmeTitle: Biomedicine and Health Sciences
Study programme type: university
Study level: postgraduate
Academic / professional title: doktor/doktorica znanosti, područje biomedicine i zdravstvo (doktor/doktorica znanosti, područje biomedicine i zdravstvo)
Type of resourceText
Extent85 str.
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2023-09-14 11:08:54