PKD Flashcards
what is PKD?
a genetic condition where kidneys develop multiple fluid filled cysts
kidney functions is impaired
+ hepatic cysts
+ cerebral aneurysm
+ palpable and enlarged kidney O/E
PKD inheritance
there are autosomal dominant AND autosomal recessive types
(AD is more common)
AD: PKD-1 chromosome 16 (85% of cases), PKD-2 chromosome 4 (15% of cases)
AR: chromosome 6. more rare and more severe, presents in pregnancy with oligohydramnios as the foetus does not produce enough urine.
PKD diagnosis
USS
genetic testing
extra-renal manifestations of PKD
Cerebral aneurysms
Hepatic, splenic, pancreatic, ovarian and prostatic cysts
Cardiac valve disease (mitral regurgitation)
Colonic diverticula
Aortic root dilatation
complication 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
AR type features
oligohydramnios in pregnancy (fetus does not produce enough urine)
features- underdevelopment of lungs which results in respiratory failure after birth. pt may need dialysis for first few days of life
+ dysmorphic features e.g underdeveloped ear cartilage, low set ears, flat nasal bridge, end-stage renal failure before reaching adulthood
how to manage PKD
- tolvaptan (vasopressin receptor antagonist)
this can slow down development of cyst and progression of renal failure in AD PKD - anti hypertensives
- analgesia for renal colic stones/cyst
- antibiotics for infection and drainage
- dialysis for end stage renal failure
- renal transplant for end-stage renal failure
additional management for PKD
Genetic counselling
Avoid contact sports due to the risk of cyst rupture
Avoid anti-inflammatory medications and anticoagulants
Regular ultrasound to monitor the cysts
Regular bloods to monitor renal function
Regular blood pressure to monitor for hypertension
MR angiogram can be used to diagnose intracranial aneurysms in symptomatic patients or those with a family history