Background/Objectives: Alport syndrome (AS) predominantly presents with X-linked inheritance worldwide. However, the epidemiological landscape remains poorly characterized, particularly among ethnic minority groups like the Roma minority in Slovakia. Our study aimed to investigate the inheritance patterns of AS in this region and determine whether a distinct pattern predominates. Methods: Selective genetic screening for pathogenic variants previously occurring in Slovakia was performed. Samples from patients with persistent (familial) hematuria ± hearing loss who had not yet undergone biopsy or genetic testing were analyzed by high-resolution melting analysis. The prevalence of AS per million (pm) population was calculated by adding information on patients with previously confirmed AS. Results: Twenty-five new cases of ARAS, one digenic form, and two cases of XLAS were identified by screening. In total, we collected information on 46 patients with genetically or bioptically confirmed AS in the region of eastern Slovakia, corresponding to a prevalence of 29 pm population. The c.1598G>A (p.Gly533Asp) pathogenic variant of the collagen type IV alpha 4 chain, which follows an autosomal recessive inheritance pattern, was the most prevalent variant that was exclusively confirmed in Roma patients (n = 35), suggesting a founder effect. Within the Roma community, the prevalence of ARAS (the most prevalent inheritance pattern) corresponds to 133 pm of the Roma population, based on midpoint population estimates. Conclusions: Our findings demonstrate a unique genetic profile of AS in the Roma population, characterized by a high prevalence of ARAS, with implications for genetic counseling and screening strategies.

2nd Department of Internal Medicine Faculty of Medicine P J Šafárik University in Košice 040 11 Košice Slovakia

Department of Medical Biology Faculty of Medicine P J Šafárik University in Košice 040 11 Košice Slovakia

Department of Paediatrics and Adolescent Medicine Faculty of Medicine P J Šafárik University in Košice 040 11 Košice Slovakia

Department of Paediatrics Faculty of Medicine Comenius University in Bratislava 833 40 Bratislava Slovakia

Fresenius Medical Care Dialyzačné Služby s r o 040 11 Košice Slovakia

Olomouc University Social Health Institute Palacký University Olomouc 779 00 Olomouc Czech Republic

Physiological Controls Research Center University Research and Innovation Center Obuda University 1034 Budapest Hungary

Transplant Department Louis Pasteur University Hospital in Košice 040 11 Košice Slovakia

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