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Table 3 Renal complications by genotype in patients with tuberous sclerosis complex

From: Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China

 

TSC1

TSC2

P value

(n = 21)

(n = 107)

TSC1 versus TSC2

Renal AML

   

 AML

20/21

104/107

0.52

 Bilateral AML

19/21

103/107

0.26

 Diameter of the largest AML (cm)

4.2 ± 1.7

5.6 ± 4.0

0.11

 Volume of largest AML (cm3)

34 ± 39

159 ± 440

0.20

 AML stage

   

  ≤ 4

18

66

0.044

  > 4

3

41

 

 Surgery/invasive procedure

7/21

54/107

0.15

  Renal embolization

6/21

31/107

0.97

  Nephrectomy/partial

2/21

35/107

0.036

 mTOR Medication (Everolimus)

4/21

68/107

< 0.001

Renal cysts

  

0.69

 Yes

1

12

 

 No

20

94

 

Renal cell carcinomas

  

0.52

 Yes

1

3

 

 No

20

104

 

Ccr (ml/min)

95 ± 20

90 ± 31

0.54

CKD stage

  

0.073

 ≤ 2

20

82

 

 > 2

1

25

 

PKD

  

0.99

 Yes

0

3

 

 No

21

104

 
  1. AML angiomyolipomas, Ccr endogenous creatinine clearance rate, CKD chronic kidney disease, PKD polycystic kidney disease