A case of atypical hemolytic uremic syndrome, associated with membrane cofactor protein (MCP) mutation

Introduction: atypical hemolytic uremic syndrome (aHUS) is a rare, life-threating disease, associated with uncontrolled activation of complement system. Frequency of aHUS in population is 1-7 cases per million. Mutations of membrane cofactor protein (MCP) were found in patients with aHUS in 15% of cases. Materials and methods: we present a case of atypical hemolytic uremic syndrome, associated with homozygous mutation of MCP gene. A girl had 6 episodes of aHUS from 2002 till 2014, and had a complete recovery of kidney function. When she was 15 year old, 7th episode has happened and she had prolonged elevation of serum creatinine level (200 μΜ/l) and LDH (360 U/l; upper limit 225 U/l) after it. In our hospital, we performed kidney biopsy, confirmed thrombotic microangiopathy, and used next-generation sequencing of CFH, CFI, CFB, MCP and THBD genes. All mutations and polymorphisms were confirmed with direct sequencing. During observation, we found thrombocytopenia 90×109/l and elevation of creatinine level up to 378 μΜ. Specific treatment with eculizumab was started. Results: homozygous mutation of MCP gene c.307C>T and homozygous polymorphism of CFH gene c.2808G>T were found in a patient with aHUS. A recovery of kidney function was achieved on eculizumab therapy.

случай, атипичный гемолитико-уремический синдром, аГУС, мутация, мембрано-кофакторный протеин, MCP, экулизумаб, case report, atypical hemolytic uremic syndrome, aHUS, mutation, membrane cofactor protein, MCP, eculizumab

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