Inherited and genetic renal disease - polycystic kidney disease
Description
- Progressive bilateral cyst formation from all nephron segments -> massive kidney enlargement, loss of functioning parenchyma
- Commonest inherited kidney disease; 5-10% of ESKD
ADPKD vs ARPKD
| ADPKD | ARPKD | |
|---|---|---|
| Gene | *PKD1 (~78%), PKD2 (~15%), GANAB, DNAJB11, IFT140* | *PKHD1* (fibrocystin) |
| Presentation | Adult, 3rd-5th decade | Neonatal/infancy |
| Kidneys | Large, irregular, macrocysts | Large, echogenic, radial microcysts |
| Liver | Polycystic liver disease | Congenital hepatic fibrosis -> portal HTN |
| Other | Intracranial aneurysm | Potter sequence, pulmonary hypoplasia |
- **PKD1 is ~20 years worse than PKD2** - median ESKD ~55 vs ~75 yrs
- Truncating PKD1 worst of all
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