Polycystic kidney disease is an inherited condition in which many fluid-filled cysts grow in both kidneys and slowly replace normal tissue. The common adult form is autosomal dominant and often leads to kidney failure by middle age, along with liver cysts and brain aneurysms.
Key symptoms
- Flank or back pain
- Blood in the urine
- Kidney stones or urinary infections
- High blood pressure found at a young age
- Family history of kidney disease
What you find on exam
- High blood pressure
- Large, palpable kidneys on both sides
- Enlarged liver from cysts
- Heart murmur from mitral valve prolapse
Tests
- Renal ultrasound: multiple cysts in both kidneys
- Creatinine, eGFR and urinalysis
- MRI to measure total kidney volume
- Genetic testing in unclear cases; brain MRA if there is a family history of aneurysm
Treatment basics
- Tight blood pressure control with an ACE inhibitor or ARB
- Tolvaptan for adults at high risk of rapid progression
- Drink plenty of water and limit salt
- Pain control without NSAIDs; treat infections and stones
- Plan for dialysis or transplant; screen family members
Red flags
- Sudden severe headache (possible ruptured aneurysm)
- Fever with flank pain (infected cyst)
- Rapid fall in kidney function
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Sources: NCCPA PANCE Content Blueprint; NBOME COMLEX-USA clinical presentations; AAMC Core Entrustable Professional Activities (Core EPAs). Written by Making Synapses. Making Synapses is not affiliated with these organizations.