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Cystic Kidney
Disease
Jason Ryan, MD, MPH
Cystic Kidney Diseases
1. Multicystic Dysplastic Kidney
2. Autosomal Recessive Polycystic Kidney Disease
3. Autosomal Dominant Polycystic Kidney Disease
4. Medullary Cystic Kidney Disease
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Multicystic Dysplastic Kidney

• Abnormal ureteric bud-mesenchyme interaction
• Kidney replaced with cysts
• No/little functioning renal tissue
• Absent ureter
• Often detected in utero by ultrasound
Multicystic Dysplastic Kidney
• If unilateral → remaining kidney hypertrophies
• If bilateral → Potter’s syndrome
• Oligohydramnios
• Failure of lung maturation
• Compressed face/limbsAfraTafreeh.com
• Not compatible with life
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Multicystic Dysplastic Kidney

• Spontaneous
• Non-inherited
• Different from other cystic disorders
• Subsequent pregnancies often okay
Polycystic Kidney Disease
• Autosomal recessive (infants)
• Autosomal dominant (young adults)

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ARPKD
• Old name: “juvenile” PKD
• Occurs in infants
• Can occur with Potter’s syndrome
• Renal failure
• High blood pressure
• Key associations:
• Liver disease (fibrosis/cysts)
• Can cause portal hypertension (ascites)
ADPKD
• Occurs in adults
• Microscopic cysts present at birth
• Too small to visualize with ultrasound
• Kidneys appear normal at birth
• Cysts develop over many years
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• Inherited mutation of APKD1 or APKD2 genes

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ADPKD

Image courtesy of Hg6996

ADPKD
• Key associations
• Berry aneurysm (subarachnoid hemorrhage)
• Liver cysts
• Mitral valve prolapse
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ADPKD
• Classic presentation
• Young adult
• High blood pressure (↑RAAS system)
• Hematuria
• Renal failure
• Family history of sudden death (aneurysm)
Medullary Cystic Kidney
Disease
• Autosomal dominant
• Cysts in collecting ducts of medulla
• Name is misnomer
• Most patients DO NOT have cysts
• Kidney fibrosis occursAfraTafreeh.com
→ small, shrunken kidneys
• Contrast with ADPKD (enlarged kidneys)
• Often have early onset (adolescent) gout
• Renal failure
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Cystic Kidney Diseases

Disease Kidney Key Features
Involvement
Multicystic Dysplastic Unilateral Detected in utero; cysts
with no renal tissue; not
hereditary
ARPKD Bilateral; large Children; large kidneys
with cysts; renal failure;
HTN; Liver (cysts, ascites)
ADPKD Bilateral; large Adults; large kidneys
with cysts; hematuria;
renal failure; berry
aneurysms
Medullary Cystic Bilateral; small Cysts in collecting ducts;
small shrunken kidneys;
early gout; renal failure