Naslov
Clinicopathological characteristics of focal segmental glomerulosclerosis (FSGS) combined with thin glomerular basement membranes

Autori
Šenjug, Petar ; Horaček, Matija ; Tišljar, Miroslav ; Crnogorac, Matija ; Torić, Luka ; Galešić, Krešimir ; Galešić Ljubanović, Danica

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Skup
3rd International Renal Pathology Conference

Mjesto i datum
New Delphi, Indija, 10.02.2017. - 12.02.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
FSGS ; COL4 variants

Sažetak
Background Recent research shows that collagen IV mutations (COL4A3, COL4A4 and COL4A5 gene mutations) cause whole spectrum of disease, ranging from benign familiar haematuria to early onset Alport's syndrome (AS). Somewhat new members in this spectrum are late onset FSGS that develops on the top of thin glomerular basement membrane nephropathy (TBMN) and familial FSGS. Aims & Objective Aim of this study was to investigate clinicopathological characteristics of focal segmental glomerulosclerosis (FSGS) combined with thin glomerular basement membranes. Material & methods We performed retrospective analysis based on medical records and found 30 patients (15 males and 15 females, median age 46 years) who underwent renal biopsy between 2003 and 2016 and were diagnosed with FSGS combined with thin glomerular basement membranes found on electron microscopy. RESULTS At the time of renal biopsy most of patients presented with asymptomatic proteinuria and/or haematuria or with nephrotic syndrome. Median 24 hour proteinuria rate was 3.22 g (0.31-19.8 g) and median creatinine level was 117 µmol/L (56-430 µmol/L). There was no family history of AS or TBMN. However, one patient had positive family history for haematuria and 4 for end stage renal disease. There were 15 cases of primary and 15 cases of secondary FSGS and histological types were: perihilar (36.7 %), classical (36.7 %), tip-lesion (13.2 %), cellular (6.7 %) and collapsing type (6.7 %). Median portion of globally sclerosed glomeruli was 17.3 %, segmentally sclerosed glomeruli 15.7 % and interstitial fibrosis and tubular atrophy 16 %. Nodular hyalinosis in more than one arteriole or hyalinosis in full circumference was present in 57.1 % of cases and moderate or severe arterial fibrointimal thickening was present in 22.2 % of specimens. Median of average glomerular basement membrane thickness was 219.5 nm (133-254 nm). There were no lamelation or conspicuous variations in GBM thickness. CONCLUSIONS We have presented clinicopathological characteristics of focal segmental glomerulosclerosis (FSGS) combined with thin glomerular basement membranes. Our further plan is to test these patients for collagen IV mutations as a part of our project ‘Genotype-Phenotype correlation in Alport's syndrome and Thin Glomerular Basement Membrane Nephropathy’, supported by Croatian Science Foundation, to confirm possible underlying genetic background.

Izvorni jezik
Engleski

POVEZANOST RADA