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Chapter 14 - Tuberous Sclerosis Complex

from Section 6 - Cystic Diseases

Published online by Cambridge University Press:  10 August 2023

By
Christie L. Boils
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

Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited syndrome caused by mutations in either hamartin (TSC1 gene, chromosome 9q34) or tuberin (TSC2 gene, chromosome 16p13), leading to hamartomas, tumors, and cysts of multiple organs. The extreme variability of organ involvement and phenotypic expression, manifesting over a broad age range, makes the diagnosis of tuberous sclerosis complex challenging. The clinical diagnosis of TSC is based on the presence of major and minor features; those diagnostic features involving the kidney are angiomyolipomas and cysts, both of which are often multiple and bilateral. Angiomyolipomas range from overt to microscopic to angiomyolipomatous change of the renal parenchyma. Renal disease may be the initial or only manifestation of TSC, and absence of a family history is likely, given the high incidence of new mutations.

Keywords

Tuberous sclerosis complex (TSC)angiomyolipomarenal cystrenal microcystpolycystic kidneyangiomyolipomatous changeangiomyolipoma with epithelial-lined cyst (AMLEC)mTOR inhibitor
Type
Chapter
Information
Pediatric Nephropathology & Childhood Kidney Tumors , pp. 272 - 282
Publisher: Cambridge University Press
Print publication year: 2023

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References

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  • Tuberous Sclerosis 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/10.1017/9781108907224.015
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  • Tuberous Sclerosis 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/10.1017/9781108907224.015
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.

  • Tuberous Sclerosis 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/10.1017/9781108907224.015
Available formats
×