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Encyclopedia of Pathology pp 1–2Cite as

Autosomal-Recessive (Infantile) Polycystic Kidney Disease

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Part of the book series: Encyclopedia of Pathology ((EP))

Definition

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.

Macroscopy

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.

Microscopy...

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Reference and Further Reading

  • 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.

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Author information

Authors and Affiliations

  1. Department of Diagnostic and Public Health, Section of Pathology, University of Verona, Verona, Italy

    Anna Caliò & Guido Martignoni

  2. Department of Pathology, Pederzoli Hospital, Peschiera del Garda, Peschiera del Garda, Italy

    Diego Segala & Guido Martignoni

Authors
  1. Anna Caliò
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  2. Diego Segala
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  3. Guido Martignoni
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Corresponding author

Correspondence to Guido Martignoni .

Editor information

Editors and Affiliations

  1. NIJMEGEN, The Netherlands

    J.H.J.M. van Krieken

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Caliò, A., Segala, D., Martignoni, G. (2019). Autosomal-Recessive (Infantile) Polycystic Kidney Disease. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_4784-1

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  • DOI: https://doi.org/10.1007/978-3-319-28845-1_4784-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-28845-1

  • Online ISBN: 978-3-319-28845-1

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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