Izvorni znanstveni članak
https://doi.org/10.3325/cmj.2021.62.20 4
Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series
Petar Šenjug
; Department of Nephropathology and Electron Microscopy, Department of Pathology and Cytology, Dubrava University Hospital, Zagreb, Croatia
Tamara Nikuševa Martić
; Department of Biology, Zagreb University School of Medicine, Zagreb, Croatia
Marija Šenjug Perica
; Children’s Hospital Srebrnjak, Zagreb, Croatia
Maja Oroz
; Dr. Fran Mihaljević University Hospital for Infectious Diseases, Zagreb University School of Medicine, Zagreb, Croatia
Matija Horaček
; Institute of Pathology, Zagreb University School of Medicine, Zagreb, Croatia
Kristina Gotovac Jerčić
; Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia
Krešimir Galešić
; Department of Nephrology, Dubrava University Hospital, Zagreb, Croatia
Danica Galešić Ljubanović
; Institute of Pathology, Zagreb University School of Medicine, Zagreb, Croatia
Sažetak
Aim To present the pathohistological and clinical charac
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teristics of five Croatian families with Alport spectrum dis
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orders 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 bi
-
opsy analysis and five family members. Mutation screening
was performed with Illumina MiSeq platform. The patho
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genic variant was confirmed with standard dye-terminator
sequencing.
Results The only homozygous patient, aged two, had pro
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teinuria and hematuria with preserved kidney function
and no extrarenal manifestations. This patient had chang
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es characteristic for Alport syndrome observed on elec
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tron 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 kid
-
ney biopsy findings. Three patients had thin glomerular
basement membrane nephropathy visible on electron mi
-
croscopy and focal segmental glomerulosclerosis on light
microscopy, two of them with focal lamellation on elec
-
tron 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 heterozy
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gous patients presented with reasonably mild clinical phe
-
notype and variable pathohistological findings.
Ključne riječi
Hrčak ID:
278129
URI
Datum izdavanja:
24.6.2021.
Posjeta: 438 *