УСПЕШНОЕ ПРИМЕНЕНИЕ ЭКУЛИЗУМАБА ПРИ НЕОБЫЧНОМ ТЕЧЕНИИ АТИПИЧНОГО ГЕМОЛИТИКО-УРЕМИЧЕСКОГО СИНДРОМА У РЕБЕНКА

Abstract

Atypical hemolytic-uremic syndrome (aHUS) is an orphan disease characterized by the development of thrombotic microdgium due to uncontrolled activation of the alternative complement pathway. Mutations of factors preventing excessive activation of the complement system are detected in most patients. For many years, despite the lack of appropriate evidence-based indications, plasmotherapy (PT) remained the first line treatment method. However, approaches to the management of patients have changed significantly with the accumulation of numerous data on the rapid progression to the end-stage renal disease regardless of whether PT was carried out initially or not. Statistical data has changed significantly with the launch of pathogenetic anticomplement therapy with monoclonal antibody (mAb) eculizumab due to most patients achieving remission of TMA and normalization of renal functions. The article presents a clinical case of a child with typical features of nephrotic syndrome with an early onset of disease. A heterozygous mutation in the CFH gene that was detected initially did not cause concerns about possible aHUS due to the lack of laboratory and morphological data for TMA. However, subsequently, the episodes of acute renal injury in combination with thrombotic microangiopathy (TMA) and severe arterial hypertension developed in a child, which made it possible to reconsider the diagnosis of aHUS and initiate the therapy with the biological analogue of eculizumab of a Russian origin, in which remission of TMA and complete recovery of renal functions were achieved. This clinical case demonstrates the difficulties of differential diagnosis of congenital nephropathies. Prognostic adverse outcomes in aHUS require a thorough evaluation of data with early induction of specific biological therapy, which allows the successful monitoring of the course of the disease.