Polycystic Kidney Disease

Polycystic Kidney Disease

1. AD

   • Genes
     • PKD-1: chromosome 16 (85% of cases)
     • PKD-2: chromosome 4 (15% of cases)
   • Extra-renal Manifestations
     • Cerebral aneurysms
     • Hepatic, splenic, pancreatic, ovarian & prostatic cysts
     • Cardiac valve disease (MR)
     • Colonic diverticula
     • Aortic root dilatation
   • Complications
     • Chronic loin pain
     • HTN
     • CVD
     • Gross haematuria can occur with cyst rupture > usually resolves within few days
     • Renal stones
     • End stage renal failure - mean age 50 years

2. AR

   • Gene on chromosome 6
   • More rare, more severe
   • Often presents in pregnancy with oligohydramnios
     • Respiratory failure shortly after birth, may require dialysis within first few days
   • Can have dysmorphic features - underdeveloped ear cartilage, low set ears, flat nasal bridge
   • Usually have end stage renal failure before reaching adulthood

3. Management

   • Tolvaptan - slow development of cysts and progression of renal failure in AD
   • Supportive of complications
     • Antihypertensives
     • Analgesia for renal colic (stones)
     • Abx for infection, drainage of infected cysts
     • Dialysis/ transplant for end stage renal failure
     • Genetic counselling
     • Avoid contact sports - risk of cyst rupture
     • Avoid anti-inflammatory medications and anticoagulants
     • Regular bloods, USS, BP
     • MR angiogram - diagnose intracranial aneurysms in symptomatic pts or FH

4. Kidney, hepatic cysts, cerebral aneurysms

5. Palpable, enlarged kidneys may be felt

6. Diagnosis by kidney USS & genetic testing