Renal cystic diseases Flashcards
What are the genes involved in autosomal dominant polycystic kidney disease?
PKD1 on Chr16, polycystin 1 (80%): cell-cell and cell- matrix membrane receptor
PKD2 on Chr4, polycystin 2: Ca2+ channel that interacts ̄c polycystin
Pathophysiology of ADPKD
Large cysts arising from all parts of nephron Progressive decline in renal function
70% ESRF by 70yrs
Epidemiology of ADPKD
Adults 40-60yrs
Presentation: MISSHAPES
Mass: abdo mass and flank pain Infected cyst Stones SBP↑ Haematuria or haemorrhage into cyst Aneurysms: berry → SAH Polyuria + nocturia Extra-renal cysts: liver Systolic murmur: mitral valve prolapse
General treatment of ADPKD
↑ water intake, ↓ Na, ↓ caffeine (may ↓ cyst formation) Monitor U+E and BP
Genetic counselling
MRA screen for Berry aneurysms
Medical treatment of ADPKD
Rx HTN aggressively: <130/80 (ACEi best) Rx infections
Surgical treatment of ADPKD
Pain may be helped by laparoscopic cyst removal or
nephrectomy.
Prognosis of ADPKD
ESRF in 70% by 70yrs
Dialysis or transplant
Autosomal recessive PKD epidemiology
Prev: 1:40,000
Infancy
Renal cysts and congenital hepatic fibrosis
What is medullary sponge kidney
Multiple cystic dilatations of the CDs in the medulla
Typically presents in 20-30s
Commoner in females
Often asymptomatic, but predisposes to
Hypercalciuria and nephrolithiasis Recurrent UTIs and pyelonephritis Haematuria
Renal function is usually normal
What is tuberous sclerosis/ Bourneville’s disease?
AD condition ̄c hamartomas in skin, brain, eye, kidney
Skin, neuro, renal problems of Bourneville’s disease
Skin: nasolabial adenoma sebaceum, ash-leaf macules, peri-ungual fibromas
Neuro: ↓IQ, epilepsy
Renal: cysts, angiomyolipomas
Differentials for enlarged kidneys: PHONOS
Polycystic kidneys: ADPKD, ARPKD, TS Hypertrophy 2O to contralateral renal agenesis Obstruction (hydronephrosis) Neoplasia: RCC, myeloma, amyloidosis Occlusion (renal vein thrombosis) Systemic: early DM, amyloid
