Obilježja bolesnika s nefropatijom tankih glomerularnih bazalnih membrana udruženom s fokalnom segmentalnom glomerulosklerozom

doctoral thesis

• Title (english): Characteristics of patients with thin basement membrane nephropathy combined with focal segmental glomerulosclerosis
• Author: Matija Horaček
• Mentor: Danica Galešić-Ljubanović (mentor)
• Committee member: Ivica Horvatić (predsjednik povjerenstva)
• Committee member: Stela Bulimbašić (član povjerenstva)
• Committee member: Mario Laganović (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; Zagreb
• Defense date and country: 2023-09-11, 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: Glomeruloskleroza; Virulencija; Elektroni; Bubreg; Biopsija
• Keywords (english): Glomerulosclerosis; Virulence; Electrons; Kidney; Biopsy
• Language: croatian
• URN:NBN: urn:nbn:hr:105:639661
• Study programme: Title: 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 resource: Text
• Extent: 85 str.
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-09-14 11:08:54