engleski

Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population

Alport syndrome (AS) and thin basement membrane nephropathy(TBMN) are part of the spectrum of kidney disorders caused bypathogenic variants inα3, α4, orα5 chains of the collagen type IV, the major structural component of the glomerular basementmembrane (GBM). Using targeted next- generation sequencing(NGS), 34 AS/TBMN patients (58.8% male) from 12 unrelated familieswere found positive for heterozygous c.2881+1G>A variant of theCOL4A3gene, which is considered disease- causing. All patients werefrom the continental or island part of Croatia. Clinical, laboratory, and histopathological data collected from the medical records wereanalyzed and compared to understand the clinical course and prognosis of the affected patients. At the time of biopsy or firstclinicalevaluation, 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%) withhypertension. Twenty- three (67.6%) patients had proteinuria at follow- up, and five (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 underwentkidney 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 theprognosis and therapeutic approach for the affected patients

alport syndrome (AS) ; thin basement membrane nephropathy (TBMN) ; proteinuria ; collagen type IV ; α3 chain ofcollagen IV ; COL4A3c.2881+1G>A variant ; targeted next-generation sequencing (NGS)

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