Sonography: Sonography is the diagnostic method of first choice in ADPKD. The individual cysts can have a diameter of 5 cm or more. Echogenic material is sometimes found inside the cyst. Since it is not possible to differentiate sonographically between pus, hematoma or detritus, further diagnostics should follow in such cases (Hofmann 2005).
In addition, examination of possibly existing extrarenal manifestations (see also:
- Liver
- Pancreas
- Spleen
- Echocardiogram of the heart (Kasper 2015 / Hofmann 2005)CT or MRT
CT or MRI are generally not required for diagnostic confirmation of ADPKD (Risler 2008).
In the case of sonographically unclear findings, such as echogenic material within the cyst, a CT or MRI is always recommended for further differentiation (Hofmann 2005).
Another indication is the determination of the total kidney volume (TKV), which can be used to measure the growth rate of the cysts.
There are 2 classifications to TKV(Herold 2021):
1. PROPKD score: This is a prognostic model to calculate the probability of End Stage Renal Disease (ESRD).
- Male: 1 point
- hypertension before the age of 35: 2 points
- first urological event before the age of 35: 2 points
- PKD2- mutation: 0 points
- non-shortening PKD1- mutation: 2 points
- truncation of the PKD1- mutation: 4 points
Evaluation (Cornec- Le Gall 2016)
- 0 - 3 points: low risk (onset of ESRD 81.4% after age 60; mean age: 70.6 years).
- 4 - 6 points: medium risk (average age for ESRD: 56.9 years).
- 7 - 9 points: high risk (onset of ESRD in 90.9 % before the age of 60; average age: 49 years)
2. mayo clinic classification : the mayo classification predicts the loss of glomerular filtration fraction per year
using kidney volume adjusted for height (HtTKV) in relation to age, differentiating between class A - E (Serra 2017):
- A man: - 0.23 woman: 0.03
- B - 1,33 - 1,13
- C. - 2,63 - 2,43
- D - 3,48 - 3,29
- E. - 4,78 - 4,58
Cranial CT: Cranial CT should be used for risk assessment in familial cerebral hemorrhage and clinical symptoms such as severe headache, intracranial pressure symptoms (Risler 2008).