Polycystic Kidney Disease Flashcards
What is Polycystic Kidney Disease (PKD)?
Genetic condition
kidneys develop multiple fluid-filled cysts
Kidney function significantly impaired
Palpable, enlarged kidneys may be felt on examination.
Types of PKD
Autosomal dominant
Autosomal recessive
How is PKD diagnosed?
Kidney ultrasound scan
Genetic testing
What genes are associated with Autosomal Dominant Type PKD
PKD-1: chromosome 16 (85% of cases)
PKD-2: chromosome 4 (15% of cases)
Associated Extra-renal Manifestations (5)
Cerebral aneurysms
Hepatic, splenic, pancreatic, ovarian and prostatic cysts
Cardiac valve disease (mitral regurgitation)
Colonic diverticula
Aortic root dilatation
Complications of PKD
Chronic loin pain
Hypertension
Cardiovascular disease
Gross haematuria can occur with cyst rupture (this usually resolves within a few days
Renal stones are more common in patients with PKD
End-stage renal failure occurs at a mean age of 50 years
Where is the gene for autosomal recessive PKD?
Chromosome 6
Rarer and more severe
Often presents in pregnancy with oligohydramnios as the fetus does not produce enough urine
Features of ARPKD
Oligohydramnios leads to underdevelopment of the lungs resulting in respiratory failure shortly after birth
Patients may require dialysis within the first few days of life
Can have dysmorphic features such as underdeveloped ear cartilage, low set ears and a flat nasal bridge
Usually have end-stage renal failure before reaching adulthood
Management of PKD
Tolvaptan (a vasopressin receptor antagonist)
- Can slow the development of cysts and the progression of renal failure in ADPKD
Mainly supportive of the complications:
Antihypertensives
Analgesia - stones or cysts
Antibiotics for infection/drainage of cysts
Dialysis
Renal transplant
Further management of PKD (7)
Genetic counselling
Avoid contact sports - cyst rupture
Avoid anti-inflammatory medications and anticoagulants
Regular uss
Regular bloods to monitor renal function
Regular blood pressure
MR angiogram can be used to diagnose intracranial aneurysms in symptomatic patients or those with a family history
