Polycystic Kidney Disease

Gregory G. Germino, Lisa M. Guay-Woodford

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Polycystic kidney disease (PKD) results from single gene defects transmitted as either autosomal dominant or autosomal recessive traits. Different ages of onset, variability in kidney disease progression, and a diverse array of extrarenal manifestations distinguish these disorders. In autosomal dominant PKD (ADPKD), defects in either of two causative genes, PKD1 or PKD2, can initiate cyst formation resulting from a germline mutation in one allele and a somatic mutation in the second allele. The respective protein products, polycystin-1 (PC1) and polycystin-2 (PC2), form a receptor-channel complex that is variably expressed in the plasma cell membrane, as well as in the primary apical cilia membrane. Autosomal recessive PKD (ARPKD) results from mutations in the PKHD1 gene, which encodes the protein product, fibrocystin/polyductin (FPC), which is also expressed in primary cilia. This chapter discusses PKD genetics, clinical and genetic diagnosis, management of organ-specific complications, and future directions for disease monitoring and potential therapies.

Original languageEnglish (US)
Title of host publicationChronic Renal Disease
PublisherElsevier Inc.
Pages484-500
Number of pages17
ISBN (Print)9780124116160, 9780124116023
DOIs
StatePublished - Sep 24 2014

Fingerprint

Polycystic Kidney Diseases
Cilia
Autosomal Recessive Polycystic Kidney
Alleles
Cell Membrane
Autosomal Dominant Polycystic Kidney
Mutation
Inborn Genetic Diseases
Germ-Line Mutation
Kidney Diseases
Plasma Cells
Age of Onset
Genes
Disease Progression
Cysts
Proteins
Membranes
Therapeutics
polycystic kidney disease 2 protein
Direction compound

Keywords

  • Ca channel
  • Fibrocysin/polyductin
  • Polycystic kidney
  • Polycystic liver
  • Polycystin
  • Polyductin
  • Portal hypertension
  • Primary cilia
  • Systemic hypertension

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Germino, G. G., & Guay-Woodford, L. M. (2014). Polycystic Kidney Disease. In Chronic Renal Disease (pp. 484-500). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-411602-3.00040-8

Polycystic Kidney Disease. / Germino, Gregory G.; Guay-Woodford, Lisa M.

Chronic Renal Disease. Elsevier Inc., 2014. p. 484-500.

Research output: Chapter in Book/Report/Conference proceedingChapter

Germino, GG & Guay-Woodford, LM 2014, Polycystic Kidney Disease. in Chronic Renal Disease. Elsevier Inc., pp. 484-500. https://doi.org/10.1016/B978-0-12-411602-3.00040-8
Germino GG, Guay-Woodford LM. Polycystic Kidney Disease. In Chronic Renal Disease. Elsevier Inc. 2014. p. 484-500 https://doi.org/10.1016/B978-0-12-411602-3.00040-8
Germino, Gregory G. ; Guay-Woodford, Lisa M. / Polycystic Kidney Disease. Chronic Renal Disease. Elsevier Inc., 2014. pp. 484-500
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