Encyclopedia of Pathology

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

Autosomal-Dominant (Adult) 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_4783-1

Definition

Autosomal-dominant polycystic kidney disease is the most common genetically transmitted renal cystic disease.

Clinical Features

  • Incidence

    The incidence is estimated between 1:500 and 1:1000.

  • Age

    Most patients present in the third to fourth decade of life; however pediatric cases can occur.

  • Sex

    Slight male predominance is reported (male-to-female ratio 3:2).

  • Site

    The kidneys are mostly affected bilaterally.

  • Treatment

    Renal dialysis is the standard of care followed by renal transplant, when necessary.

  • Outcome

    Renal failure occurs in roughly 59% of patients.

The most frequent clinical findings are positive family history, flank mass, hematuria, hypertension, and azotemia. Hepatic fibrosis and biliary dysgenesis may be present. Renal cell adenoma and carcinoma can be seen among the cysts.

Macroscopy

The kidneys are enlarged but reniform with an outer surface displaying innumerable cysts ranging in size from a few millimeters to several centimeters (Fig. 1).
Fig. 1

An enlarged kidney with innumerable cysts

Microscopy

The cysts are lined by a single layer of cuboidal epithelium; however hyperplastic configuration of the epithelium, forming papillary tufts, is focally present. The intervening renal parenchyma may be normal or atrophic. The cysts may contain proteinaceous fluid and calcium oxalate crystals.

Molecular Features

PKD1 gene is located on the short arm of chromosome 16 (16p.3.3); codes for polycystin 1, which is involved in cell-cycle regulation and intracellular calcium transport; and localizes in the primary cilia of renal epithelial cells. The PKD2 gene is located on the long arm of chromosome 4 (4q.21.2); codes for polycystin 2, a member of the family of voltage-activated calcium channels; and localizes to the primary cilia of renal epithelial cells. PKD1 is the most commonly implicated, affecting approximately 85% of patients, PKD2 roughly 15%.

Rarely, classic autosomal-dominant polycystic kidney disease is observed associated with tuberous sclerosis, as a new example of the “contiguous gene syndromes,” because the PKD1 gene is immediately adjacent to TSC2 gene, the most important gene of tuberous sclerosis.

Differential Diagnosis

The fully developed cases rarely posed a diagnostic problem. However, in the early stages, autosomal-dominant polycystic kidney disease should be distinguished from the other cystic diseases including multiple simple cysts.

References and Further Reading

  1. Koptides, M., & Deltas, C. C. (2000). Autosomal dominant polycystic kidney disease: Molecular genetics and molecular pathogenesis. Human Genetics, 107, 115–126.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 HospitalPeschiera del GardaItaly