Inherited Renal Disease Flashcards
Autosomal dominant polycystic kidney disease is the most important renal genetic disease to know about.
What chromosome does it effect?
It can be split into two types PKD1 and PKD2. What type is most likely to develop into ESKD quicker?
Chromosome 16
PKD1
Where do the cysts occur in ADPKD compared to autosomal recessive PKD?
Which one has a worse prognosis?
ADPKD - cysts in tubules (tubules look a bit like a D = dominant)
ARPKD - cysts in collecting ducts
ARPKD - worse prognosis
How does Alport’s syndrome present?
Microscopic haemturia and sensorineural hearing loss
What is the gold standard for diagnosis of PKD?
USS - if unsure MRI/CT
Genetic testing/good FH should also be gained
What is the name of the novel drug used to reduce cyst size in PKD?
Tolvaptan (does require a water intake of 7-8l orally/day)
Should patients with PKD reduce or increase their hydration?
Increase - need at least 3-4l a day
helps to reduce cyst size
Why would patients with PKD feel chronic poor localised pain in their loin region?
As kidneys swell - capsular stretch
Anderson Fabrys disease is an enzyme deficiency. How is it managed?
IV enzyme replacement
On renal biopsy, variable thickness of the glomerular basement membrane is seen. What condition is this?
Alport’s
Medullary sponge kidney puts you at an increased risk of what?
Renal stones
Where else can ADPKD present?
In liver and can cause cerebral aneurysms
Match: ADPKD ARPKD Kids Adults
ADPKD - adults
ARPKD - kids
