Table 1 |
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Clinical data of the patients from the family 42 |
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Patient |
171/fam 42 |
172/fam 42 |
174/fam 42 |
175/fam42 |
176/fam42 |
|
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Gender |
M |
M |
F |
M |
M |
|
Age (years) |
66 |
38 |
32 |
16 |
14 |
|
Age of onset (years) |
66 |
35 |
32 |
14 |
7 |
|
Blood pressure |
H |
H; on therapy |
N |
N |
N |
|
Serum creatinin (μmol/l) |
not measured |
not measured |
80 |
105 |
75 |
|
Ultrasound of liver |
not done |
numerous cysts |
normal |
normal |
normal |
|
Ultrasound of kidneys |
enlarged kidneys, large cysts |
enlarged kidneys, large cysts, calcinations |
cysts |
several small cysts |
several small cysts |
|
Dialysis (age at start in years) |
no |
no; first signs of insufficiency |
no |
no |
no |
|
Additional symptoms |
severe arterial hypertension |
headaches |
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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. |
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Vouk et al. BMC Medical Genetics 2006 7:6 doi:10.1186/1471-2350-7-6 |
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