ADPCKD

Question 1

Genetics -chromosome involved in APCKD

Answer 1

PKD 1- Chr 16 (Polycystin 1) , PKD 2-Chr 4 (polycystin 2)

Question 2

Clinical features PKD -1 Vs PKD -2

Answer 2

More rapid deterioration of renal functions in PKD -1
Earlier onset of cysts, more no of cysts
Median age of ESRD -54 ( 74 in PKD -2)

Question 3

Polycystins regulate tubular and vascular development in which organs

Answer 3

Kidney, liver, brain(aneurysm), heart (MVP), pancreas

cysts

Question 4

Sonographic criteria for ADPCKD

Answer 4

Patients with positive family history :
Age 15-40 > 3 cysts uni/bilateral
40-59 - >2 cysts each kidney
>60 - >4 cysts each kidney

Question 5

UTI in ADPCKD

Answer 5

May be due to infected cyst -often requires fluoroquinolones

Question 6

Novel therapies in ADPCKD

Answer 6

Tolvaptan -vasopressin receptor antagonist

Suppresses vasopressin

Question 7

Process involved in renal cyst formation in PKD1

Answer 7

Non clonal expansion of tubular epithelial cells