Renal - Polycystic Kidney Disease Flashcards
What is polycystic kidney disease?
Genetic condition where healthy kidney tissue replaced with fluid-filled cysts
Enlarged kidneys can be palpable
What does polycystic kidney disease lead to?
Renal failure
What are the different types of polycystic kidney disease?
Autosomal dominant
Autosomal recessive
Dominant type is more common
What are the affected genes in autosomal dominant polycystic kidney disease (ADPKD)?
PKD1 gene- chromosome 16 (85% of cases)
PKD2 gene- chromosome 2 (15% of cases)
What are the extra-renal manifestations of autosomal dominant polycystic kidney disease?
Cerebral aneurysms
Hepatic, splenic, pancreatic, ovarian and prostatic cysts
Mitral regurgitation
Colonic diverticula
What are the complications of autosomal dominant polycystic kidney disease?
Chronic loin/ flank pain
Hypertension
Gross haematuria (cyst rupture resolves within a few days)
Recurrent UTI
Renal stones
End-stage renal failure (mean age of 50 years)
What is autosomal recessive polycystic kidney disease caused by?
Mutation in Polycystic kidney and hepatic disease 1 gene on chromosome 6
How is autosomal recessive polycystic kidney disease detected?
Rarer and severe than ADPKD
Picked up on antenatal scans with oligohydramnios
What does oligohydramnios lead to?
Underdevelopment of the foetal lungs (pulmonary hypoplasia) and respiratory failure shortly after birth
What do patients with autosomal recessive polycystic kidney disease need as soon as they are born?
Haemodialysis within the first few days of life
What features do patients with autosomal recessive polycystic kidney disease?
Dysmorphic features
- Underdeveloped ear cartilage
- Low set ears
- Flat nasal bridge
When do patients with autosomal recessive polycystic kidney develop end-stage renal failure?
Usually before adulthood
How is autosomal recessive polycystic kidney disease managed?
Ultrasound and genetic testing for diagnosis
Tolvaptan (vasopressin receptor antagonist) slows development of cysts and progression of renal failure in autosomal dominant polycystic kidney disease
How is polycystic kidney disease managed?
Antihypertensives
Analgesia
Antibiotics
Drainage of cysts
Dialysis
Renal transplant
What lifestyle advice can be given for further management of polycystic kidney disease?
Genetic counselling
Avoid contact sports due to risk of cyst rupture
Avoiding NSAIDs and anticoagulants
MR angiography can be used to screen for cerebral aneurysms
