prikaz prve stranice dokumenta Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series
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Scientific paper - Original scientific paper
Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series
Croatian Medical Journal, 62 (2021), 3; 204-214. https://doi.org/10.3325/cmj.2021.62.204
Šenjug, Petar; Nikuševa Martić, Tamara; Šenjug Perica, Marija; Oroz, Maja; Horaček, Matija; Gotovac Jerčić, Kristina; Galešić, Krešimir; Galešić Ljubanović, Danica

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Šenjug, P., Nikuševa Martić, T., Šenjug Perica, M., Oroz, M., Horaček, M., Gotovac Jerčić, K. ... Galešić Ljubanović, D. (2021). Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series. Croatian Medical Journal, 62. (3), 204-214. doi: 10.3325/cmj.2021.62.204

Šenjug, Petar, et al. "Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series." Croatian Medical Journal, vol. 62, no. 3, 2021, pp. 204-214. https://doi.org/10.3325/cmj.2021.62.204

Šenjug, Petar, Tamara Nikuševa Martić, Marija Šenjug Perica, Maja Oroz, Matija Horaček, Kristina Gotovac Jerčić, Krešimir Galešić and Danica Galešić Ljubanović. "Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series." Croatian Medical Journal 62, no. 3 (2021): 204-214. https://doi.org/10.3325/cmj.2021.62.204

Šenjug, P., et al. (2021) 'Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series', Croatian Medical Journal, 62(3), pp. 204-214. doi: 10.3325/cmj.2021.62.204

Šenjug P, Nikuševa Martić T, Šenjug Perica M, Oroz M, Horaček M, Gotovac Jerčić K, and sur.. Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series. Croatian Medical Journal [Internet]. 2021 June 30 [cited 2024 November 26];62(3):204-214. doi: 10.3325/cmj.2021.62.204

P. Šenjug, et al., "Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series", Croatian Medical Journal, vol. 62, no. 3, pp. 204-214, June 2021. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:599310. [Accessed: 26 November 2024]

Metadata
Title (english)Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series
AuthorPetar Šenjug
AuthorTamara Nikuševa Martić
AuthorMarija Šenjug Perica
AuthorMaja Oroz
AuthorMatija Horaček
AuthorKristina Gotovac Jerčić
AuthorKrešimir Galešić
AuthorDanica Galešić Ljubanović
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Internal Medicine)
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pathology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pathology
Abstract (english)
Aim To present the pathohistological and clinical characteristics of five Croatian families with Alport spectrum disorders caused by splice acceptor pathogenic variant c.193- 2A>C in COL4A4 at the genomic position chr2:227985866. ----- Methods The study enrolled five probands with kidney biopsy analysis and five family members. Mutation screening was performed with Illumina MiSeq platform. The pathogenic variant was confirmed with standard dye-terminator sequencing.----- Results The only homozygous patient, aged two, had proteinuria and hematuria with preserved kidney function and no extrarenal manifestations. This patient had changes characteristic for Alport syndrome observed on electron microscopy of the kidney biopsy. In the heterozygous group, six patients had hematuria, four biopsied probands had proteinuria, and only one had moderately reduced kidney function. Heterozygous probands had variable kidney biopsy findings. Three patients had thin glomerular basement membrane nephropathy visible on electron microscopy and focal segmental glomerulosclerosis on light microscopy, two of them with focal lamellation on electron microscopy. One heterozygous patient had changes characteristic for Alport syndrome on electron microscopy without focal segmental glomerulosclerosis. ----- Conclusion The homozygous patient had hematuria and proteinuria with preserved kidney function. The heterozygous patients presented with reasonably mild clinical phenotype and variable pathohistological findings.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCroatian Medical Journal
Numberingvol. 62, no. 3, pp. 204-214
p-ISSN0353-9504
e-ISSN1332-8166
DOIhttps://doi.org/10.3325/cmj.2021.62.204
URN:NBNurn:nbn:hr:105:599310
Publication2021-06-30
Document URLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8275942/
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) icon
Created on2021-07-28 07:30:58