Family atypical hemolytic-uremic syndrome: the history of one family

Atypical hemolytic uremic syndrome (aHUS) is a rare complement-mediated life-threatening disease belonging to the group of thrombotic microangiopathies (TMA). Currently, over 400 mutations in the genes encoding complement proteins are known. In 20% of cases, familial forms of aHUS are diagnosed. C3 mutations account for 4 to 10% of cases. The presented clinical observation demonstrates the development of aHUS in three family members (father and 2 children) with indications of an autosomal dominant type of disease inheritance. The clinical diagnosis was supported by the results of a genetic study of the complement system that identified the C3 complement component gene mutation (p.Ile1157Thr) in a family member (a son). The age of implementation of aHUS differed within the family members. The father has a debut of the disease at the age of 12, the children were diagnosed in their infancy (6 months for son, 7 months for daughter). In the presented observation, the peculiarity of the course of the disease in all family members was the development of the classical symptoms of aHUS without extrarenal symptoms. The severity of clinical manifestations differed among family members: the father had 3 episodes of activity of complement-mediated TMA, the daughter - 1, and the son - 5. At the same time, for father and daughter, the severity of hematological manifestations of aHUS prevailed over nephrological ones. For the son, this was observed only in the first 2 episodes. The severity of the disease was due to the severity of hemolysis over the remaining symptoms of TMA, and in subsequent relapses the severity was caused by the development of dialysis-dependent renal failure. All family members were plasma sensitive. Complement-blocking therapy (eculizumab) in children made it possible to achieve aHUS remission with complete restoration of renal function.

атипичный гемолитико-уремический синдром, тромботическая микроангиопатия, плазмотерапия, мутация С3, экулизумаб, atypical hemolytic-uremic syndrome, thrombotic microangiopathy, plasma therapy, mutation C3, eculizumab

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