Autosomal dominant polycystic kidney disease vs Autosomal recessive polycystic kidney disease
How to tell Autosomal dominant polycystic kidney disease and Autosomal recessive polycystic kidney disease apart when a board question makes them look alike.
ADPKD is adult cystic kidney disease with aneurysm/liver cyst clues; ARPKD is infantile kidney-liver fibrocystic disease.
Side by side
Adult-onset bilateral enlarged cystic kidneys with hypertension, flank pain, hematuria, family history, hepatic cysts, and berry aneurysm risk.
Infant or childhood presentation with massively enlarged echogenic kidneys, oligohydramnios sequence, and congenital hepatic fibrosis or portal hypertension.
PKD1 or PKD2 dysfunction disrupts tubular cilia signaling and promotes progressive cyst expansion after second-hit events.
PKHD1 dysfunction affects collecting ducts and biliary development, producing renal collecting-duct dilation plus hepatic fibrosis.
Adult patient, family history, bilateral renal cysts, liver cysts, hypertension, stones, hematuria, or intracranial aneurysm clue points ADPKD.
Neonatal respiratory distress, Potter sequence, enlarged echogenic kidneys, and congenital hepatic fibrosis points ARPKD.
The trap
Both can enlarge kidneys and involve the liver, so use age and liver pattern: cysts in ADPKD, congenital fibrosis in ARPKD.
Watch it explained
The repair move
For polycystic kidney disease, ask age first, then whether the liver clue is cysts or congenital fibrosis.
Try a free question
CoreA 42-year-old has hypertension, flank pain, hematuria, enlarged bilateral kidneys with multiple cysts, hepatic cysts, and a family history of kidney failure. Which diagnosis is most likely?
Show answer and explanation
Answer: A. Autosomal dominant polycystic kidney disease. ADPKD usually presents in adulthood with enlarged cystic kidneys, hypertension, hematuria/flank pain, hepatic cysts, and family history.
Why the other choices are tempting
- B. ARPKD presents in infancy/childhood with collecting-duct dilation and congenital hepatic fibrosis.
- C. Medullary sponge kidney causes medullary collecting duct dilation with stones/hematuria, not massive inherited bilateral cystic kidneys.
- D. Acquired cystic kidney disease occurs after long-standing dialysis.
- E. Wilms tumor is a pediatric renal malignancy.
Flashcards
Tap a card to flip it.
What age pattern favors ADPKD?
Adult presentation with bilateral renal cysts, hypertension, pain, or hematuria fits dominant polycystic disease.
What cilia mechanism drives ADPKD cyst expansion?
PKD1 or PKD2 dysfunction disrupts tubular cilia signaling, and second-hit events allow cysts to expand over time.
Quick answers
What is the fastest way to tell Autosomal dominant polycystic kidney disease from Autosomal recessive polycystic kidney disease?
ADPKD is adult cystic kidney disease with aneurysm/liver cyst clues; ARPKD is infantile kidney-liver fibrocystic disease.
What is the key clue for Autosomal dominant polycystic kidney disease?
Adult-onset bilateral enlarged cystic kidneys with hypertension, flank pain, hematuria, family history, hepatic cysts, and berry aneurysm risk.
What is the key clue for Autosomal recessive polycystic kidney disease?
Infant or childhood presentation with massively enlarged echogenic kidneys, oligohydramnios sequence, and congenital hepatic fibrosis or portal hypertension.
What is the common trap with Autosomal dominant polycystic kidney disease vs Autosomal recessive polycystic kidney disease?
Both can enlarge kidneys and involve the liver, so use age and liver pattern: cysts in ADPKD, congenital fibrosis in ARPKD.