prikaz prve stranice dokumenta Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population
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Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population
Bosnian Journal of Basic Medical Sciences, 23 (2023), 1; 89-100. https://doi.org/10.17305/bjbms.2022.7567
Horaček, Matija; Nikuševa Martić, Tamara; Šenjug, Petar; Šenjug Perica, Marija; Oroz, Maja; Kuzmac, Sania; Klarić, Dragan; Glavina Durdov, Merica; Saraga, Marijan; Milošević, Danko; Batinić, Danica; Ćorić, Marijana; Paić, Frane; Galešić Ljubanović, Danica

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Horaček, M., Nikuševa Martić, T., Šenjug, P., Šenjug Perica, M., Oroz, M., Kuzmac, S. ... Galešić Ljubanović, D. (2023). Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population. Bosnian Journal of Basic Medical Sciences, 23. (1), 89-100. doi: 10.17305/bjbms.2022.7567

Horaček, Matija, et al. "Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population." Bosnian Journal of Basic Medical Sciences, vol. 23, br. 1, 2023, str. 89-100. https://doi.org/10.17305/bjbms.2022.7567

Horaček, Matija, Tamara Nikuševa Martić, Petar Šenjug, Marija Šenjug Perica, Maja Oroz, Sania Kuzmac, Dragan Klarić, et al. "Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population." Bosnian Journal of Basic Medical Sciences 23, br. 1 (2023): 89-100. https://doi.org/10.17305/bjbms.2022.7567

Horaček, M., et al. (2023) 'Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population', Bosnian Journal of Basic Medical Sciences, 23(1), str. 89-100. doi: 10.17305/bjbms.2022.7567

Horaček M, Nikuševa Martić T, Šenjug P, Šenjug Perica M, Oroz M, Kuzmac S, i sur.. Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population. Bosnian Journal of Basic Medical Sciences [Internet]. 01.02.2023. [pristupljeno 11.04.2024.];23(1):89-100. doi: 10.17305/bjbms.2022.7567

M. Horaček, et al., "Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population", Bosnian Journal of Basic Medical Sciences, vol. 23, br. 1, str. 89-100, Veljača 2023. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:648455. [Citirano: 11.04.2024.]

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Podaci o radu
Naslov (engleski)Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population
AutorMatija Horaček
AutorTamara Nikuševa Martić
AutorPetar Šenjug
AutorMarija Šenjug Perica
AutorMaja Oroz
AutorSania Kuzmac
AutorDragan Klarić
AutorMerica Glavina Durdov
AutorMarijan Saraga
AutorDanko Milošević
AutorDanica Batinić
AutorMarijana Ćorić
AutorFrane Paić
AutorDanica Galešić Ljubanović
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA MEDICINSKU BIOLOGIJU)
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PATOLOGIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Patologija
Sažetak (engleski)
Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) are part of the spectrum of kidney disorders caused by pathogenic variants in α3, α4, or α5 chains of the collagen type IV, the major structural component of the glomerular basement membrane (GBM). Using targeted next-generation sequencing (NGS), 34 AS/TBMN patients (58.8% male) from 12 unrelated families were found positive for heterozygous c.2881+1G>A variant of the COL4A3gene, that is considered disease-causing. All patients were from the continental or island part of Croatia. Clinical, laboratory, and histopathological data collected from the medical records were analyzed and compared to understand the clinical course and prognosis of the affected patients. At the time of biopsy or first clinical evaluation, the mean age was 31 years (median: 35 years; range: 1 – 72 years). Hematuria was present in 33 patients (97.1%) and 19 (55.9%) patients had proteinuria. There were 6 (17.6%) patients with hearing loss, 4 (11.8%) with ocular lesions, and 11 (32.4%) with hypertension. Twenty-three (67.6%) patients had proteinuria at follow-up, and 5 (14.7%) patients with the median age of 48 years (range: 27-55) progressed to kidney failure, started dialysis, or underwent kidney transplantation. Of the 13 patients who underwent kidney biopsy, 4 (30.8%) developed focal segmental glomerulosclerosis (FSGS), and 8 (66.7%) showed lamellation of the GBM, including all patients with FSGS. It is essential to conduct a detailed analysis of each collagen type IV genetic variant to optimize the prognosis and therapeutic approach for affected patients.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaBosnian Journal of Basic Medical Sciences
Brojčani podacivol. 23, br. 1, str. 89-100
p-ISSN1512-8601
e-ISSN1840-4812
DOIhttps://doi.org/10.17305/bjbms.2022.7567
URN:NBNurn:nbn:hr:105:648455
Datum objave publikacije2023-02-01
URL dokumentahttps://www.bjbms.org/ojs/index.php/bjbms/article/view/7567
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2023-04-14 11:34:59