Table 3

Clinical data of the patients from families 10, 11, 20, 25, 38 and 41 in which we identified presumably pathogenic changes

Patient

Mutation/gene

Gender

Age (years)

Age of onset (years)

Blood pressure

Serum creatinin (μmol/l)

Ultrasound of liver

Ultrasound of kidneys

Dialysis (age at start in years)

Additional symptoms


33

fam 10

c.916C>T p.R306X/PKD2

M

51

42

H

147

cysts in the left lobe and gallbladder

enlarged kidneys, large cysts, calcinations

no

cardiac hypertrophy, malfunction of mitral valve

35

fam 10

c.916C>T p.R306X/PKD2

F

23

14

N

62

lesion, arterial angioma

small cysts

no

focal nodular hyperplasia in liver

36

fam 10

c.916C>T p.R306X/PKD2

F

18

9

N

53

normal

small cysts

no

37

fam 11

c.12772dup/PKD1

M

58+

34

H

1418

cysts, cirrhosis

enlarged kidneys, numerous cysts

yes (46)

kidney stone, obstructive icterus

40

fam 11

c.12772dup/PKD1

F

23

11

N

82

normal

small cysts

no

77

fam 20

c.11820_ 11845del/PKD1

F

56

46

P

450

cysts

numerous cysts

yes (48)

idiopathic dilated cardiomyopathy

161

fam 20

c.11820_11845del/PKD1

M

47

40

H

399

normal

numerous cysts

yes (44)

persistent hepatitis B

89

fam 25

c.8522G>A p.E2771K/PKD1

M

65

38

N

200

enlarged

numerous cysts

no; first signs of insufficiency

90

fam 25

c.8522G>A p.E2771K/PKD1

F

42

28

N

normal

enlarged

numerous cysts

no

91

fam 25

c.8522G>A p.E2771K/PKD1

F

61

40

N

700–800

enlarged with portal hypertension

numerous cysts

yes (43)

headaches

92

fam 25

c.8522G>A p.E2771K/PKD1

M

40

32

N

normal

enlarged

numerous cysts

no

166

fam 38

c.11745+3_5 dup/PKD1

F

20

9

P

not measured

normal

enlarged kidneys, numerous small cysts

no

endometriosis

148

fam 41

c.11693_11697dup/PKD1

F

44

21

P

458

normal

enlarged kidneys, cysts

yes (44)

gallstones


M or F designate male or female patients. Normal values for blood pressure are less then 120/80 mm Hg, (in the table designated as N) values from 120/80 mm Hg up to 139/89 mm Hg indicate prehypertension (P) and values above 140/90 indicate hypertension (H). Normal values for serum creatinin are 70–115 μmoles/l for men and 52–97 μmoles/l for women. Cross (+) designates death of the patient at the age of 58 years. For relation of the patients in the families 10, 11 and 25 see Figure 2 [see Figure 2]. Patients 77 and 161 from the family 20 are sister and brother. Clinical data for the patient 198 from the family 50 were not complete therefore we did not include them in the Table 3.

Vouk et al. BMC Medical Genetics 2006 7:6   doi:10.1186/1471-2350-7-6

Open Data