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Chapter 16 - Nephronophthisis Complex

from Section 6 - Cystic Diseases

Published online by Cambridge University Press:  10 August 2023

By
Kerstin Amann
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

Genetic renal diseases account for an underestimated group of patients with chronic kidney disease (CKD) and end-stage kidney failure (ESKD). Nephronophthisis (NPH) and autosomal dominant tubulointerstitial kidney disease (ADTKD) are two forms of hereditary tubulointerstitial disease with variable genetic transmission, e.g., autosomal recessive in NPH and autosomal dominant in ADTKD, and different underlying mutations and pathophysiology, but similar renal morphology with non-specific tubular atrophy and interstitial fibrosis as the most prominent features. NPH is a ciliary disease belonging to the NPH-related ciliopathies (NPH-RC) with currently more than 90 known genes, affecting primarily children and adolescent patients where it represents the most common cause of ESKD. ADTKD affects mostly adults and can be divided into five major forms with specific associated gene mutations leading to misfolded proteins that confer altered tubular energy supply and protein trafficking. Both diseases are associated with a poor renal prognosis and lack specific treatment.

Keywords

Nephronophthisis (NPH)autosomal dominant tubulointerstitial kidney disease (ADTKD)geneticstubular atrophyinterstitial fibrosisend-stage kidney disease (ESKD)
Type
Chapter
Information
Pediatric Nephropathology & Childhood Kidney Tumors , pp. 290 - 298
Publisher: Cambridge University Press
Print publication year: 2023

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  • Nephronophthisis Complex
  • 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/10.1017/9781108907224.017
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  • Nephronophthisis Complex
  • 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/10.1017/9781108907224.017
Available formats
×

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.

  • Nephronophthisis Complex
  • 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/10.1017/9781108907224.017
Available formats
×