Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

CFH, DGKE, CD46, C3, CFB, THBD, CFHR3, CFHR1, CFI, VTN, BAAT, ADAMTS13, TRIM25, C17orf67, CAPG, C5, CFHR5, VWF, C4BPA, C5AR1, IGAN1, PLG, C4BPB, CRP, GRHPR, CFHR4, C3AR1, TNF, GPR182, CABIN1

CFH, DGKE, CD46, C3, CFB, THBD, CFHR3, CFHR1, CFI, VTN, BAAT, ADAMTS13, TRIM25, C17orf67, CAPG, C5, CFHR5, VWF, C4BPA, C5AR1, IGAN1, PLG, C4BPB, CRP, GRHPR, CFHR4, C3AR1, TNF, GPR182, CABIN1, HPLH1, SMARCAL1, KRT20, SPZ1, PRSS55, CRISP2, THBS1, CRYGD, HP, ETFA, FHL1, MTOR, G6PD, GPI, CR1, CPB1, CD40LG, SPTA1, IL5, CD36, MUC1, MS4A1, NHS, PIGA, MASP1, NFE2L2

Drugs

Antagonist of the complement 5a receptor, Complement factor H, Eculizumab ( SOLIRIS )

Antagonist of the complement 5a receptor, Complement factor H, Eculizumab ( SOLIRIS ), Recombinant human minibody against complement component C5

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A number sign (#) is used with this entry because susceptibility to the development of atypical hemolytic uremic syndrome-5 (AHUS5) can be conferred by mutation in the gene encoding complement component-3 (C3; 120700).

For a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 (235400).

Clinical Features

Fremeaux-Bacchi et al. (2008) reported 11 probands with atypical HUS. Further pedigree analysis showed that 1 proband had 2 additional affected family members and another had 1 additional affected family member. Age at onset ranged from 8 months to 40 years. Most developed end-stage renal disease, and all had decreased serum C3. Six patients had undergone renal transplantation, 3 of whom had recurrence of the disease after transplantation.

Molecular Genetics

In 11 probands with atypical HUS, Fremeaux-Bacchi et al. (2008) identified 9 different heterozygous mutations in the C3 gene (see, e.g., 120700.0005-120700.0008). Five of the mutations resulted in a gain of function with resistance to degradation by MCP (120920) and CFI (217030), and 2 resulted in haploinsufficiency. Family history, when available, showed decreased penetrance.