Polycystic Kidney Disease Flashcards
At what age does AD PCKD present?
40-60 y/o
1/1000
What genes are effected in AD PCKD?
PKD1 - Chromosome 16. Polycystin 1 (80%): cell-cell and cellmatrix membrane receptor
PKD2 - Chromosome 4. Polycystin 2: Ca2+ channel that interacts with polycystin 1
What is the pathology of AD PCKD?
Large cysts arising from all parts of nephron
Progressive decline in renal function
70% ESRF by 70yrs
Kidneys become enlarged with poor function
What is the presentation of AD PCKD?
MISSHAPES M - Mass; abdominal, with loin pain I - Infected cysts S - Stones S - Systolic BP increased H - Haematuria, Haemorrhage into cysts A - Aneurysms - berry causing subarachnoid haemorrhage P - Polyuria, nocturia E - Extra renal cysts eg liver S - Systolic murmur due to mitral valve prolapse
Why do you get mitral valve prolapse secondary to renal disease?
Myxsomatous degeneration of valve
Increase in BP/blood volume due to renal disease so more likely to develop heart failure and mitral valve prolapse
What is the general management of AD PCKD?
↑ water intake, ↓ Na, ↓ caffeine (may ↓ cyst formation)
Monitor U+E and BP
Genetic counselling
Screen for Berry aneurysms
What is the medical management of AD PCKD?
Treat HTN aggressively:
What is the surgical management of AD PCKD?
Pain may be helped by laparoscopic cyst removal or nephrectomy.
What is the prognosis for AD PCKD?
Poor
70% progress to end stage renal failure by 70 y/o
Will need dialysis or renal transplant
What are the 2 different types of PCKD?
Autosomal dominant
Autosomal recessive
What is Autosomal recessive PCKD?
Very rare - prevalence: 1:40,000
Presents in Infancy with renal cysts and congenital hepatic fibrosis
What are the differentials for an enlarged kidney?
PHONOS
P - Polycystic kidneys
H - Hypertrophy secondary to contralateral renal agenesis
O - Obstruction leading to hydronephrosis
N - Neoplasia; RCC, myeloma, amyloidosis
O - Occlusion (renal vein thrombosis)
S - Systemic; early DM, amyloid
