Skip to main content

Table 3 Genetic variants of aHUS in our study

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

  

Case 1

Case 2

Case 3

Case 4

Genetic analysis

Complement factor

Amino acid substitution

ExAC All

HGVD by Kyoto Univ

Amino acid substitution

ExAC All

HGVD by Kyoto Univ

Amino acid substitution

ExAC All

HGVD by Kyoto Univ

Amino acid substitution

ExAC All

HGVD by Kyoto Univ

CFH

H402Y

0.6721

C>T:0.9309

V62I

0.321

G > A:0.4143

H402Y

0.6721

C>T:0.9309

V62I

0.321

G>A:0.4115

E936D

0.1955

G>T:0.4500

H402Y

0.6721

C>T:0.9309

E936D

0.1955

G>T:0.4500

H402Y

0.6721

C>T:0.9315

 

V837I

0.001306

G>A:0.0194

 

E936D

0.1955

G>T:0.4482

THBD

A473V

0.1997

G>A:0.2668

 

A473V

0.1997

G>A:0.2668

A473V

0.1997

C>T:0.263

Trigger

 

Renal transplantation

Influenza

AIP/DIC

Influenza-mimicking symptoms

AIP/DIC

SFTS