Autosomal recessive polycystic kidney disease
- Lesion
A recessive ciliopathy that enlarges both kidneys with collecting duct cysts before birth and always scars the liver.
What it is
ARPKD is a rare disease of infancy and childhood caused by variants in PKHD1, which encodes fibrocystin (polyductin), a ciliary protein. Collecting ducts dilate into elongated cysts at right angles to the cortex, so both kidneys are large and spongy. Severe forms present at birth with oligohydramnios and pulmonary hypoplasia; children who survive develop congenital hepatic fibrosis with portal hypertension.
Structure
- Cut surface is sponge-like with elongated channels perpendicular to the capsule through the cortex and medulla.
- Dilated collecting ducts lined by uniform cuboidal cells.
- Liver: enlarged portal tracts with many irregular bile ducts in fibrous tissue; cysts in some cases (Caroli disease).
Clinical notes
- Prenatal ultrasound shows large bright kidneys and oligohydramnios.
- Survivors may need kidney and liver transplantation; variceal bleeding from portal hypertension is a key risk.
Test yourself
Think of the answer, then tap the question to see it.
Which protein is defective in ARPKD?
Fibrocystin (polyductin), encoded by PKHD1.
What is the shape and origin of the cysts in ARPKD?
Small, elongated cysts arranged radially, arising from dilated collecting ducts.
Which liver lesion always accompanies ARPKD?
Congenital hepatic fibrosis, which leads to portal hypertension.
Elsewhere in DurgiPedia
Connections
Educational content on the mechanisms of disease; not a diagnostic or treatment guide and no substitute for a health professional's advice. No doses are given.
Sources: Polycystic kidney disease: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2025).
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Representative model, for educational purposes only.