- ADPKD & ARPKD
- ADPKD
- Most common monogenetic disease ( CF, Hemophilia, Sickle cell anemia, Muscular dystrophy)
- 1 in 400-1000.
- 4th leading cause of CRF.
- AD – 50 % chance of transmission to siblings.
- PKD1 gene (85%) in chr – 16q.
- Cystic & Non cystic multisystem manifestations.
- Cystic
-
- kidneys 100%, liver 75%, pancreas, spleen, brain, ovaries.
- Non cystic
-
- Berry’s aneurysm, MVP, Hernias…
- C/F
- Asymptomatic
- Flank pain / Haematuria => 20yrs.
- Hypertension
- Renal failure in 5-6th decade.
- Complications
-
- Infection, Hemorrhage/ rupture of cyst
- CRF
- Symptomatic Rx.of infection, pain…
- Adequate control of HTN prevents CRF.
- ESRD – RRT, Transplantation.
- Gene therapy.
- Antenatal screening & prevention.
Take home message
- 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.
0 Comments