Comparative characteristics of patients with different types of Alport syndrome inheritance

Abstract

Purpose. A comparative characterization of clinical forms and outcomes in patients with Alport syndrome with different types of inheritance.Characteristics of patients and research methods. We have conducted a retrospective controlled comparative non-randomized single-center longitudinal study that included 60 patients who were admitted to nephrology department of the Russian Children’s Clinical Hospital of the Pirogov Russian National Research Medical University from 2004 to 2020: there were 22 (37%) girls and 38 (63%) boys from 2 to 18 years of age. The median age (Me) was 8,7 [5,4; 13,7] years old. The patients were divided into 2 groups: Group 1 received with cyclosporine A and nephroprotectors, Group 2 received nephroprotectors only.Results. We identified 75% X-linked, 20% autosomalrecessive, and 5% autosomal dominant types of inheritance among our patients. 45% manifested with combined hematuria with proteinuria, 43% of patients — with isolated hematuria, and 12% — with isolated proteinuria. Hearing damage was detected in 45% of patients, eye damage — in 5%. Nephrotic syndrome developed in 22% of patients, arterial hypertension — in 15%. In patients with X-linked Alportsyndrome, there was a statistically significant(p=0,002) reduction of proteinuria during the first 6 months of treatment in Group 1 compared to Group 2. The difference in proteinuria decrease during therapy is not statistically significant among differenttypes of inheritance. According to survival data, patients with autosomalrecessive inheritance of disease proceed more severely in comparison with other types of inheritance, and this difference tendsto be statically significant(p=0,065).Conclusion. Timely diagnosis and proper management of patients with Alport syndrome can improve the disease outcome. To determine the prognosis, it is important not only to collect detailed patient’s history and conduct morphological examination, but also to provide genetic testing to determine the type of inheritance.