Young Patient with Alport Syndrome and End-Stage Renal Disease. A Clinical Observation

Alport syndrome (AS) is a genetically determined disease caused by abnormalities in the genes encoding alpha-3/4/5 chains of type IV collagen. Collagen IV is the most important structural component of the glomerular basement membranes, retina and inner ear, therefore, genetic mutations in this disease lead to kidney damage, vision and hearing impairment. Depending on the type of mutation, the clinical features of AS vary from asymptomatic decrease to early development of end-stage renal disease (ESRD), hearing loss and blindness. At the same time, AS is one of the most common causes of familial proteinuria in the population. Historically, this disease was considered a pediatric disease and more common in males, although currently its prevalence among women is high. The female sex is associated with a milder course and late development of complications, including vision and hearing impairment and ESRD. According to J.P. Jais et al., ESRD is observed by the age of 45 in 12 % of patients with the x-linked variant of AS. Early onset of severe manifestations is quite rare, which leads to insufficient diagnosis of genetically determined kidney diseases, late genetic testing and initiation of treatment, including transplantation. Currently, the problem of detection, therapeutic and surgical treatment of AS remains a difficult issue to resolve.
This article presents a clinical case of diagnosis and management of a young patient with the x-linked COL4A5 variant of AS, complicated by renal parenchymal hypertension and early progression to ESRD, which required renal replacement therapy (dialysis) and kidney transplantation. The subsequent 2.5-year follow-up showed a significant improvement in the condition of target organs against the background of timely treatment.

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