[Durgical](https://durgical.com/en/) › [DurgiPedia](https://durgical.com/en/durgipedia/) › [General pathology](https://durgical.com/en/general-pathology/) › [Kidney](https://durgical.com/en/general-pathology/areas/kidney/) › Autosomal recessive polycystic kidney disease

# Autosomal recessive polycystic kidney disease

- Lesion

A recessive ciliopathy that enlarges both kidneys with collecting duct cysts before birth and always scars the liver.

Updated Nov 12, 2026

## Key points

- Autosomal recessive; PKHD1 (fibrocystin) on chromosome 6.
- Kidneys symmetrically enlarged with smooth surfaces; cysts are small, cylindrical and radially arranged.
- Cysts arise from collecting ducts.
- Liver: always involved; ductal plate malformation, portal fibrosis, bile duct proliferation (congenital hepatic fibrosis).
- Perinatal forms cause the Potter sequence; older children present with portal hypertension and hypertension.

## 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.

## Memory aid

Recessive kidneys: big at birth, spokes in the cortex, and a liver that is always scarred.

## 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.

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## Elsewhere in DurgiPedia

- [Multicystic dysplastic kidney and polycystic kidney disease](https://durgical.com/en/embryology/multicystic-dysplastic-kidney-and-polycystic-kidney-disease/)
- [Renal agenesis and the Potter sequence](https://durgical.com/en/embryology/renal-agenesis-and-the-potter-sequence/)

## Connections

## Related 4

- [Autosomal dominant polycystic kidney disease](https://durgical.com/en/general-pathology/autosomal-dominant-polycystic-kidney-disease/)
- [Cystic kidney diseases: comparison table](https://durgical.com/en/general-pathology/cystic-kidney-diseases-comparison-table/)
- [Choledochal cysts and fibropolycystic disease](https://durgical.com/en/general-pathology/choledochal-cysts-and-fibropolycystic-disease/)
- [Portal hypertension](https://durgical.com/en/general-pathology/portal-hypertension/)

## Related conditions 3

- [Autosomal recessive polycystic kidney disease](https://durgical.com/en/conditions/autosomal-recessive-polycystic-kidney-disease/)
- [Portal hypertension](https://durgical.com/en/conditions/portal-hypertension/)
- [Congenital kidney anomalies (horseshoe kidney, renal agenesis)](https://durgical.com/en/conditions/congenital-kidney-anomalies/)

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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](https://medlineplus.gov/genetics/condition/polycystic-kidney-disease/) (MedlinePlus, US National Library of Medicine, 2025).

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Representative model, for educational purposes only.

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Source: https://durgical.com/en/general-pathology/autosomal-recessive-polycystic-kidney-disease/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/general-pathology/autosomal-recessive-polycystic-kidney-disease/