Polycystic Kidney Disease

l       ADPKD & ARPKD.

l      ADPKD-

l      Most common  monogenetic disease ( CF, Hemophilia, Sickle cell anemia, Muscular dystrophy)

l       1 in 400-1000.

l      4th leading cause of CRF

l      AD – 50 % chance of transmission to siblings.

l      PKD1 gene (85%) in chr - 16q.

l      Cystic & Non cystic multisystem manifestations.

l      Cystic

l       kidneys 100%, liver 75%, pancreas,                                                                    spleen, brain, ovaries.

l      Non cystic

l       Berry`s aneurysm, MVP,  Hernias..

l      C/F-

l      Asymptomatic

l      Flank pain / Haematuria- >20yrs.

l      Hypertension

l      Renal failure in 5-6th decade.

l      Complications-

–        Infection, Hemorrhage/ rupture of cyst .

–         CRF

l      Symptomatic Rx.of  infection,  pain..

l      Adequate control of HTN prevents CRF.

l      ESRD- RRT, Transplantation.

l      Gene therapy.

l      Antenatal screening & prevention.

Take home message

l      Think of secondary hypertension if

–        Onset is <20 yrs or >55yrs.

–        Difficult to control(refractory) HTN.

–        Previously controlled HTN getting uncontrolled.

–        TOD @ detection of HTN

           ADPKD is not a rare entity.