Encyclopedia of Pathology

Living Edition
| Editors: J.H.J.M. van Krieken

Autosomal-Recessive (Infantile) Polycystic Kidney Disease

  • Anna Caliò
  • Diego Segala
  • Guido MartignoniEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-3-319-28845-1_4784-1


Infantile polycystic kidney disease is an autosomal-recessive disorder.

Clinical Features

  • Incidence

    It occurs in 1:6000–1:14,000 live births.

  • Age

    It affects both children and adults.

  • Sex

    Slight male predominance is reported (male-to-female ratio 2:1).

  • Site

    The kidneys are bilaterally involved.

  • Treatment

    For patients who survive infancy, approximately 50% require dialysis by age 20 due to renal failure.

  • Outcome

    Children develop arterial hypertension and end-stage renal failure. Hepatic fibrosis and biliary dysgenesis are frequent. Approximately one third die of lung hypoplasia. No association with renal neoplasms has been documented.


In this condition, the kidneys are symmetrically enlarged and retain a reniform configuration and appear diffusely sponge on section. The parenchyma exhibits cylindrical dilated collecting ducts radiating from the medulla to the cortex, their long axis perpendicular to the renal surface, obscuring the cortical-medullary junction.


In the younger patients, the kidney is almost entirely made up of dilated terminal branches of the collecting ducts, cylindrical in the cortex and round to oval in the medulla, lined with cuboidal epithelium sometimes with foci of hyperplasia. In the older patients, the cysts are fewer in number but larger, associated with tubular atrophy and glomerular sclerosis of the surrounded parenchyma.

Molecular Features

Autosomal-recessive polycystic kidney disease is linked to a gene mapped on chromosome 6p,28 named polycystic kidney and hepatic disease gene (PKHD1) due to the consistent hepatic involvement.

Differential Diagnosis

Autosomal-recessive polycystic kidney should be distinguished from multicystic renal dysplasia.

Reference and Further Reading

  1. Zerres, K., Mucher, G., Bachner, L., et al. (1994). Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nature Genetics, 7, 429–432.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of Diagnostic and Public Health, Section of PathologyUniversity of VeronaVeronaItaly
  2. 2.Department of PathologyPederzoli Hospital, Peschiera del GardaPeschiera del GardaItaly