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Table 3 Clinical data of the patients from families 10, 11, 20, 25, 38 and 41 in which we identified presumably pathogenic changes

From: PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

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
  1. 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.