prikaz prve stranice dokumenta Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series
  Preuzmi
PDF 1.21 MB
Znanstveni rad - Izvorni znanstveni rad
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

Institucijski repozitorij: Dr Med - digitalni repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

Citirajte ovaj rad

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, br. 3, 2021, str. 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 i 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, br. 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), str. 204-214. doi: 10.3325/cmj.2021.62.204

Šenjug P, Nikuševa Martić T, Šenjug Perica M, Oroz M, Horaček M, Gotovac Jerčić K, i sur.. Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series. Croatian Medical Journal [Internet]. 30.06.2021. [pristupljeno 29.11.2024.];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, br. 3, str. 204-214, Lipanj 2021. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:599310. [Citirano: 29.11.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:105:599310
Podaci o radu
Naslov (engleski)Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series
AutorPetar Šenjug
AutorTamara Nikuševa Martić
AutorMarija Šenjug Perica
AutorMaja Oroz
AutorMatija Horaček
AutorKristina Gotovac Jerčić
AutorKrešimir Galešić
AutorDanica Galešić Ljubanović
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA INTERNU MEDICINU)
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PATOLOGIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Interna medicina
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Patologija
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaCroatian Medical Journal
Brojčani podacivol. 62, br. 3, str. 204-214
p-ISSN0353-9504
e-ISSN1332-8166
DOIhttps://doi.org/10.3325/cmj.2021.62.204
URN:NBNurn:nbn:hr:105:599310
Datum objave publikacije2021-06-30
URL dokumentahttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8275942/
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje-Nekomercijalno-Bez prerada 4.0 međunarodna (CC BY-NC-ND 4.0)
Datum i vrijeme pohrane2021-07-28 07:30:58