polycystic kidney disease Flashcards
what is polycystic kidney disease?
- a genetic condition where the kidneys develop multiple fluid filled cysts
- kidney function is impaired
- can present with hepatic cysts or cerebral aneurysms
what are the two types of PKD?
- autosomal recessive
- autosomal dominant
how is PKD diagnosed?
-ultrasound and genetic testing
what are the two types of genetic mutation for autosomal dominant PKD and which is more common?
PKD 1 on chromosome 16 (85%)
PKD 2 on chromosome 4 (15%)
what are some extra renal manifestations of autosomal dominant PKD?
- cerebral aneurysms
- hepatic, splenic, pancreatic, ovarian and prostatic cysts
- aortic root dilatation
- cardiac valve disease (mitral regurgitation)
- colon diverticula
what are some complications of autosomal dominant PKD?
- chronic loin pain
- hypertension
- cardiovascular disease
- gross haematuria (can also occur when a cyst ruptures)
- renal stones (more common in patients with PKD)
- end stage renal failure (mean age 50)
what causes autosomal recessive PKD?
-gene mutation on chromosome 6
when does autosomal recessive PKD often present and why?
in pregnancy it may present as oligohydramnios as the fetus does not produce enough urine
how may babies born with autosomal recessive PKD often present?
- baby will often be born with dysmorphic features such as underdeveloped ear cartilage, low set ears and flat nasal bridge
- oligohydraminios also leads to underdeveloped lungs so many babies may have respiratory failure shortly after birth
- often need dyalisis soon after birth
- most will have end stage renal failure before adulthood
what is the treatment for polycystic kidney disease?
Tovaptan (ADH receptor antagonist) works to reduce size and volume of cysts
how does ADPKD and ARPKD present differently on ultrasound?
ADPKD:
- enlarged kidneys
- big cysts rise from epithelium of tubules
- 25% of time develop benign adenomas
ARPKD:
- regular sized, smooth kidneys
- small cysts on collecting ducts
