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).
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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