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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Scientific paper - Original scientific paper
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, no. 1, 2023, pp. 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, no. 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), pp. 89-100. doi: 10.17305/bjbms.2022.7567

Horaček M, Nikuševa Martić T, Šenjug P, Šenjug Perica M, Oroz M, Kuzmac S, and 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]. 2023 February 01 [cited 2024 November 22];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, no. 1, pp. 89-100, February 2023. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:648455. [Accessed: 22 November 2024]

Metadata
Title (english)Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population
AuthorMatija Horaček
AuthorTamara Nikuševa Martić
AuthorPetar Šenjug
AuthorMarija Šenjug Perica
AuthorMaja Oroz
AuthorSania Kuzmac
AuthorDragan Klarić
AuthorMerica Glavina Durdov
AuthorMarijan Saraga
AuthorDanko Milošević
AuthorDanica Batinić
AuthorMarijana Ćorić
AuthorFrane Paić
AuthorDanica Galešić Ljubanović
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Medical Biology)
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pathology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pathology
Abstract (english)
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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleBosnian Journal of Basic Medical Sciences
Numberingvol. 23, no. 1, pp. 89-100
p-ISSN1512-8601
e-ISSN1840-4812
DOIhttps://doi.org/10.17305/bjbms.2022.7567
URN:NBNurn:nbn:hr:105:648455
Publication2023-02-01
Document URLhttps://www.bjbms.org/ojs/index.php/bjbms/article/view/7567
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2023-04-14 11:34:59