Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series
| Autor: | Petar Šenjug, Tamara Nikuševa, null Martić, Marija Šenjug Perica, Maja Oroz, Matija Horaček, Kristina Gotovac, null Jerčić, Krešimir Galešić, Danica Galešić, null Ljubanović |
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| Rok vydání: | 2021 |
| Předmět: |
Collagen Type IV
Pathology medicine.medical_specialty Nephritis Hereditary* / diagnosis Renal function Nephritis Hereditary Collagen Type IV* / genetics urologic and male genital diseases Nephropathy Hematuria / genetics Focal segmental glomerulosclerosis Biopsy Humans Medicine Alport syndrome Hematuria Kidney Proteinuria medicine.diagnostic_test urogenital system business.industry Nephritis Hereditary* / genetics General Medicine COL4A4 medicine.disease female genital diseases and pregnancy complications Pedigree medicine.anatomical_structure Mutation medicine.symptom business Nephritis Research Article |
| Zdroj: | Croatian Medical Journal Volume 62 Issue 3 |
| ISSN: | 1332-8166 0353-9504 |
| DOI: | 10.3325/cmj.2021.62.204 |
| Popis: | Aim To present the pathohistological and clinical charac - teristics of five Croatian families with Alport spectrum dis - 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 - genic variant was confirmed with standard dye-terminator sequencing. Results The only homozygous patient, aged two, had pro - teinuria and hematuria with preserved kidney function and no extrarenal manifestations. This patient had chang - es characteristic for Alport syndrome observed on elec - 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 - gous patients presented with reasonably mild clinical phe - notype and variable pathohistological findings. |
| Databáze: | OpenAIRE |
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