Table 1 Some clinical and laboratory data of the members of the UBRS033 family.

From: A novel loss-of-function mutation of PBK associated with human kidney stone disease

Sample no.

Gender

Age

Age of onset*

KUB result

Site/side of stone

No. of stones/size** (cm.)

Treatment

Urine pH

Other Symptoms

Diagnosis

Dysuria

Hematuria

Pass stone

Turbid urine

II:11

Male

63

45

Positive/opaque stones

Renal/both

2/0.5

No

5.3

No

Yes

No

No

Renal stone (KUBa)

II:1

Female

59

40

Positive/opaque stones

Renal/both

1/2.0

Surgery/ESWL

5.3

No

No

No

No

Renal stone (KUB)

II:3

Male

54

43

Positive/opaque stones

Renal, ureter/both

2/2.7

No

5.8

Yes

Yes

Yes

Yes

Renal and ureteric stone (KUB)

II:4

Female

52

40

Positive/opaque stones

Renal/left

1/1.0

Surgery/ESWL

5.4

Yes

Yes

No

Yes

Renal stone (KUB)

II:12

Female

48

28

Negative

  

No

6.4

Yes

No

Yes

No

Renal stone (strong historyb)

II:5

Male

48

23

Positive/opaque stones

Renal/right

2/4.0

Surgery/ESWL

5.8

No

Yes

No

No

Renal stone (KUB)

III:3

Female

34

5

Negative

   

5.3

Yes

Yes

Yes

No

Renal stone (strong history)

III:4

Female

34

19

Negative

Unknown/left

NA

Surgery/ESWL

5.7

No

Yes

No

Yes

Renal stone (surgical scarc)

I:2

Female

78

 

Negative

   

5.6

No

Yes

No

Yes

No stone

II:6

Male

47

 

Negative

   

5.9

No

No

No

No

No stone

II:7

Male

44

 

Negative

   

5.6

No

No

No

No

No stone

II:13

Female

42

 

Negative

   

5.4

No

No

No

No

No stone

III:1

Female

38

 

Negative

   

5.3

No

No

No

No

No stone

III:5

Female

29

 

Negative

   

5.7

No

No

No

No

No stone

III:6

Male

22

 

Negative

   

6.5

No

No

No

No

No stone

III:7

Female

20

 

Negative

   

6.3

No

No

No

No

No stone

  1. ESWL = Extracorporeal shock wave lithotripsy for kidney stones.
  2. aThe patient had positive results of kidney–ureter–bladder (KUB) radiography. bThe patient had strong clinical history as justified from the presence of several symptoms associated with kidney stone, especially hematuria and stone passage. cThe patient had surgical scar for removal of stone.
  3. *Age of onset of stone, **Size of the biggest stone.