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Table 3 literature reports on ISRNS caused by WT1 gene mutation in Chinese children

From: Isolated steroid-resistant nephrotic syndrome in a Chinese child carrying a de novo mutation in WT1 gene:a case report and literature review

References

gender

The onset age(year)

Age of ESRD

Onset(year)

Mutations

Region

Mutations

type

Sequence Changes

Protein Changes

Renal

Pathology

Therapy

treatment

response

Renal outcome

1

This report

female

8

10

Exon 9

Missense mutation

c.748C > T

p.R250W

PSG

MP → P + MMF

 → CTX → HD → KT

Resistant

ESRD

2

Li J,Ding J,

et al. [12]

female

0.3

3

Exon 9

splice

mutation

c.IVS9 + 5G > A

p.D396N

FSGS

GC → CsA

Resistant

ESRD

3

female

1

1.3

Exon 9

Splice

mutation

c.IVS9 + 5G > A

p.D396N

GC → CTX

Resistant

ESRD

4

Liang-zhong sun.et al. [2]

female

0.5

0.5

Exon 8

Missense mutation

c.1097G > A

p.R366H

DMS

_

_

5

female

Exon 8

Missense mutation

c.1097G > A

p.R366H

_

_

6

female

Exon 9

Missense mutation

c.1180C > T

p.R394W

FSGS

P → FK506

Complete remission

Normal

7

female

0.1

0.1

Exon 9

Missense mutation

c.1180C > T

p.R394W

DMS

_

_

8

female

9

Exon 9

Missense mutation

c.1180C > T

p.R394W

DMS

P → HD → KT

Resistant

Normal

9

Yue Z, et al

[4]

female

0.4

0.4

Intron 9

splice mutation

c.1228 + 4C > T

_

_

-

 

ESRD

10

female

9

_

Intron 9

splice mutation

c.1228 + 4C > T

_

FSGS

P + MP → MZ → MMF → FK506

Normal

11

female

1

6.8

Intron 9

splice mutation

c.1228 + 5G > A

_

MCD

P → MMF → MP + CSA → FK506

improve

ESRD

12

female

5

_

Exon 9

Missense mutation

c.1180 C > T

p.R394W

FSGS

P → FK506

Resistant

Normal

13

female

0

0.2

Exon 9

Missense mutation

c.1180 C > T

p.R394W

DMS

-

Complete

remission

ESRD

14

Yang Yonghui

et al. [11]

female

0.5

0.5

Exon 8

Missense mutation

c.1097 G > A

p.R366H

DMS

-

ESRD

15

female

2

_

Exon 9

Missense mutation

c.1180C > T

p.R394W

_

-

Normal

16

female

8.1

_

Exon 9

splice mutation

c.1051A > G

p.D396N

_

_

Resistant

 

17

male

6.3

6.3

Exon 8

Missense mutation

c.1051A > G

p.K351E

_

HD

Resistant

ESRD

  1. CSA Cyclosporine A, CTX Cyclophosphoramide, DMS Diffuse Mesangial Sclerosis, ESRD End-stage Renal Disease, FK506 tacrolimus, FSGS Focal Segmental Glomerular Sclerosis, GC Glucocorticoid, HD Hemodialysis, PSG Proliferative Sclerosing Glomerulonephritis, KT Kidney Transplantation, MCD Minimal Change Disease, MMF Mycophenolate Mofetil, MP Methylprednisolone, NC Not Clear, P Prednisone