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Chapter 15 - Glomerulocystic Kidney (GCK) and GCK Disease (GCKD)

from Section 6 - Cystic Diseases

Published online by Cambridge University Press:  10 August 2023

By
Helen Liapis
Edited by
Helen Liapis
Helen Liapis
Affiliation:
Ludwig Maximilian University, Nephrology Center, Munich, Adjunct Professor and Washington University St Louis, Department of Pathology and Immunology, Retired Professor
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Summary

GCK and GCKD are terms used for kidney phenotypes characterized by glomerular cysts, defined as ≥2–3× dilatation of the Bowman’s space involving >5% of glomeruli in a given kidney section. GCK is a phenotype found in known hereditary cystic kidney diseases such as ADPKD, ARPKD and tuberous sclerosis, as well as numerous syndromes with multiple organ anomalies including renal dysplasia. Isolated GCK has also been described. Those cases with a specific genetic mutation/s are referred to as GCKD; included are subcategories within the nephronophthisis (ADTKD-UROM) spectrum and other ciliopathies such as heterozygous loss-of-function of SEC61A1 gene, also an autosomal dominant disease. The term GCKD is reserved for those cases presenting with GCK that do not fit in the already accepted classifications such as autosomal dominant tubulointerstitial diseases (ADTKD) (see Chapter 16). The pathogenesis of glomerular cysts remains speculative and includes developmental (glomerular patterning) gene defects and obstruction of the junction between the proximal tubule and the developing glomerulus. However, obstruction at this junction has yet to be proven in humans. The prognosis for kidney function is not good but kidney transplantation is reported with good results. Gene therapy/stem cell approaches are under investigation for premature macula densa degeneration which is included in a subset of GCK-related disorders (Bardet–Biedl syndrome/retinitis pigmentosa).

Keywords

Glomerulocystic kidney (GCK)glomerulocystic kidney disease (GCKD)autosomal dominant polycystic kidney disease (ADPKD)autosomal recessive polycystic kidney disease (ARPKD)autosomal dominant tubulointerstitial disease (ADTKD)nephronophthisisBardet–Biedl syndrome (BBS)retinitis pigmentosaoral–facial–digital syndrome (ORF)maturity onset diabetes in the young (MODY)renal dysplasia
Type
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Information
Pediatric Nephropathology & Childhood Kidney Tumors , pp. 283 - 289
Publisher: Cambridge University Press
Print publication year: 2023

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  • Glomerulocystic Kidney (GCK) and GCK Disease (GCKD)
  • Edited by Helen Liapis, Ludwig Maximilian University, Nephrology Center, Munich, Adjunct Professor and Washington University St Louis, Department of Pathology and Immunology, Retired Professor
  • Book: Pediatric Nephropathology & Childhood Kidney Tumors
  • Online publication: 10 August 2023
  • Chapter DOI: https://doi.org/10.1017/9781108907224.016
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  • Glomerulocystic Kidney (GCK) and GCK Disease (GCKD)
  • Edited by Helen Liapis, Ludwig Maximilian University, Nephrology Center, Munich, Adjunct Professor and Washington University St Louis, Department of Pathology and Immunology, Retired Professor
  • Book: Pediatric Nephropathology & Childhood Kidney Tumors
  • Online publication: 10 August 2023
  • Chapter DOI: https://doi.org/10.1017/9781108907224.016
Available formats
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Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Glomerulocystic Kidney (GCK) and GCK Disease (GCKD)
  • Edited by Helen Liapis, Ludwig Maximilian University, Nephrology Center, Munich, Adjunct Professor and Washington University St Louis, Department of Pathology and Immunology, Retired Professor
  • Book: Pediatric Nephropathology & Childhood Kidney Tumors
  • Online publication: 10 August 2023
  • Chapter DOI: https://doi.org/10.1017/9781108907224.016
Available formats
×