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Table 1 The clinical and renal pathological features of 4 patients at diagnosis

From: Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children

 

Patient 1

Patient 2

Patient 3

Patient 4

Age at onset (years)

1

5.3

10.5

3.5

Age at diagnosis (years)

1

5.3

10.5

3.5

Gender

Female

Female

Female

Female

Renal manifestation

 Edema

Y

Y

N

Y

 Hypertension

Y

Y

Y

Y

 oliguria

Y

Y

Y

Y

 Extra-renal manifestation

N

N

HF

UD, ID

 Renal pathology

FSGS

FSGS

NA

FSGS

 Hematuria

2+

2+

-

2+

 Proteinuria

3+

3+

4+

4+

 24hUP (mg/24h)

4000

2245.6

NA

2828.3

 Serum albumin(g/L)

20.9

28.6

31.6

20

 Serum creatinine at onset (mg/dl)

0.58

0.4

6.26

0.34

 eGFR at onset (ml/min/1.73m2)

57

110

9.6

114

 eGFR at last follow-up (ml/min/1.73m2)

9.0

5.0

9.6

42

 Age of ESKD (years)

1.5

9

10.5

NA

  1. Y Yes, N No, HF Heart failure, UD Uterine dysplasia, ID Intellectual disability, FSGS focal segmental glomerulosclerosis; NA Not applicable; 24hUP 24 hour urine protein