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Table 4 Previous reports regarding as aHUS and genetic variants in Japan

From: Clinical features and outcomes of four atypical hemolytic uremic syndrome cases at a single institution in Miyazaki Prefecture from 2015 to 2019

Patient

Complement factor

Genetic variants

Patient [13]

CFH

Heterozygous G3717A mutation

Heterozygous polymorphism of C257T

Heterozygous polymorphism of A2089G

Heterozygous polymorphism of G2881T

Heterozygous polymorphism of G1492A

Patient [13]

CFH

Heterozygous G3717A mutation

Heterozygous polymorphism of C257T

Heterozygous polymorphism of A2089G

Heterozygous polymorphism of G2881T

Heterozygous polymorphism of C994A

heterozygous polymorphism of G1492A

Heterozygous polymorphism of G3364A

Patient [13]

CFH

Heterozygous G3717A mutation

Heterozygous polymorphism of C994A

Heterozygous polymorphism of G1492A

Patient [13]

CFH

Heterozygous polymorphism of C257T

Heterozygous polymorphism of C994A

Heterozygous polymorphism of G3364A

Patient [13]

CFH

Heterozygous polymorphism of C257T

Heterozygous polymorphism of A2089G

Heterozygous polymorphism of G2881T

Heterozygous polymorphism of G1492A

C3645T (Ser1191Leu) in exon 23

Patient [13]

CFH

Heterozygous polymorphism of C257T

Heterozygous polymorphism of A2089G

Heterozygous polymorphism of G2881T

Patient [13]

CFH

heterozygous polymorphism of C257T

Heterozygous polymorphism of A2089G

Heterozygous polymorphism of G2881T

Patient [21]

C3

p.I1157T

CFH

p.E936D(homo)

CFB

p.R32W

Patient [21]

C3

p.I1157T(homo)

CFH

p.E936D

CFB

p.R32W

THBD

p.D486Y

Patient [21]

C3

p.I1157T

CFH

p.E936D(homo)

 

p.Y1058H

 

p.V1060L

CFB

p.R32W

Patient [21]

C3

p.I1157T

CFH

p.V62I

 

p.E936D

 

p.Y1058H

 

p.V1060L

CFI

p.R406H

THBD

p.A473V

Patient [21]

C3

p.I1157T

CFH

p.E936D(homo)

CFI

p.R201S

CFB

p.R32W

Patient [18]

C3

p.I1157T

CFH

p.V837I

 

p.E936D

CFI

p.R201S

CFB

p.R32W(homo)

Patient [21]

C3

p.I1157T

CFH

p.V62I

p.E936D

THBD

p.R403K

p.A473V

Patient [21]

C3

p.I1157T

CFH

p.V62I

p.E936D

p.Y1058H

p.V1060L

CFB

p.R32Q

Patient [22]

C3

p.I1157T

CFH

p.Y1058H

p.V1060L

Patient [23]

CFH

p.R1215Q

Patient [24]

MCP

p.Ala311Val

Patient [25]

C3

p.R425C

Patient [26]

CFH

p.R1215G

Patient [12]

CFH

p.Val62Ile

p.His402Tyr

Patient [27]

THBD

p.Val231Ile (heterozygous)

Patient [27]

MCP

p.Ala311Val

Patient [28]

CFHR

del-CFHR1

Patient [29]

CFH

p.R1215G

Patient [30]

CFHR

del CFHR1-CFHR3

Patient [31]

C3

p.I1157T

Patient [32]

CFH

p.R1215Q

Patient [33]

CFHR

Heterozygous CFHR3-CFHR1gene deletion

Patient [34]

CFB

p.Leu9His

CFH

p.Glu936Asp

CFHR5

p.Pro453Ser

THBD

p.Ala473Val

Patient [34]

CFB

p.Arg32Gln

CFH

p.Val63Ile

p.His402Tyr

p.Glu936Asp

Patient [35]

C3

p.Ile1157Thr

MCP

p.Pro195Ser

Patient [35]

CFB

p.Leu9His

MCP

p.Ala311Val

Patient [35]

CFH

p.Phe176Leu

p.Arg1215Gln

CFHR5

p.Pro453Ser

Patient [35]

C3

p.Ser179Pro

CFH

p.His402Tyr

p.Glu936Asp

Patient [35]

CFH

p.His402Tyr

p.Glu936Asp

MCP

p.Thr163Ile

Patient [35]

DGKE

c.71delT

c.1213-2A>G