autosomal dominant PCKD

Question 1

why is there pain

Answer 1

stretching of renal capsule kidneys enlarging

Question 2

classification

Answer 2

PKD1: Defect in chromosome 16 - more severe and common
Results in earlier age for hypertension onset, ESRD, and death compared to
PDK2
PKD2 (less severe/common) Defects in chromosome 4

Question 3

why is there hypertension

Answer 3

Cysts can compress blood vessels Activates RAAS Fluid retention - hypertension

also due to GFR!- most important

Question 4

where can the other cysts be

Answer 4

hepatic & pancreatic

cysts

Question 5

other systemic findings

Answer 5

Polycystic liver disease and cysts in other organs - pancreas
Intracranial aneurysms (berry aneurysm)
colonic diverticulosis
hernias
Mitral valve prolapse
Benign hepatic cysts
HF: due to aortic root dilation/ Mitral valve prolapse/Regurgitation

Question 6

symptoms

Answer 6

flank pain
hematuria
Nephrolithiasis: from urine stasis
Upper UTI specially in women

Question 7

diagnosis

Answer 7

Ultrasound: Very good for screening also
CT and MRI - detecting cysts smaller than 1cm
Characterized by significant renal enlargement in the setting of normal kidney
function
Genetic testing
May be required to confirm/exclude a diagnosis of ADPKD
Reserved for patients with renal cystic disease without family history
Direct sequencing of the PKD1 and PKD2 genes - most reliable approach

Question 8

tx

Answer 8

Renal replacement therapy – dialysis
Patients with ADPKD reach ESRD with the need of RRT
Hemodialysis usually is started
Kidney transplantation performed with excellent results
One sided or bi-nephrectomy must be performed before the transplantation
For hypertension - ACE inhibitors, ARBS.

Question 9

why type of stones

Answer 9

urate

Question 10

when do symptoms usually begin

Answer 10

30-40

Question 11

then will ESRD

Answer 11

60 ‘S 70’S