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Inherited Diseases of the Glomerular Basement Membrane

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Pediatric Nephrology

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Abstract

The glomerular basement membrane (GBM) is a vital component of the filtration barrier of the kidney and is primarily composed of a highly structured matrix of type IV collagen along with laminin isoforms, nidogens, and the heparan sulfate proteoglycans: perlecan, agrin, and type XVIII collagen. Specific isoforms of type IV collagen, the α3(IV), α4(IV), and α5(IV) isoforms, assemble into trimers that are required for normal GBM function. Mutations in these type IV collagen isoforms cause dysfunction of the GBM that varies depending on genotype and sex and is called Alport syndrome. Classic Alport syndrome is characterized by glomerular hematuria with variably progressive chronic kidney disease, sensorineural hearing loss, and ocular findings. Mutations in laminin β2 cause Pierson syndrome manifesting as congenital nephrotic syndrome. Additional disorders with abnormal findings in the GBM on kidney biopsy include nail-patella syndrome and MYH9-related disorders.

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Authors and Affiliations

  1. Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK

    Rachel Lennon

  2. Department of Paediatric Nephrology, Royal Manchester Children’s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK

    Rachel Lennon

  3. Pediatric Department, Peking University First Hospital, Beijing, China

    Jie Ding

  4. Department of Pediatrics, Division of Pediatric Nephrology, University of Minnesota Masonic Children’s Hospital, Minneapolis, MN, USA

    Michelle N. Rheault

Authors
  1. Rachel Lennon
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  2. Jie Ding
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  3. Michelle N. Rheault
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Corresponding author

Correspondence to Michelle N. Rheault .

Editor information

Editors and Affiliations

  1. Division of Nephrology, Bambino Gesù Children’s Hospital –, ROMA, Roma, Italy

    Francesco Emma

  2. Division of Nephrology and Hypertension The Heart Institute, University of Cincinnati Cincinnati Children’s Hospital Medical C, Cincinnati, OH, USA

    Stuart Goldstein

  3. Division of Nephrology, All India Institute of Medical Sciences, Ansari Nagar East, Delhi, India

    Arvind Bagga

  4. Division of Pediatric Nephrology, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA

    Carlton M. Bates

  5. Renal Unit, Graet Ormond Street Hospital, London, UK

    Rukshana Shroff

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Lennon, R., Ding, J., Rheault, M.N. (2021). Inherited Diseases of the Glomerular Basement Membrane. In: Emma, F., Goldstein, S., Bagga, A., Bates, C.M., Shroff, R. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-27843-3_79-2

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  • DOI: https://doi.org/10.1007/978-3-642-27843-3_79-2

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  • Print ISBN: 978-3-642-27843-3

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  1. Latest

    Inherited Diseases of the Glomerular Basement Membrane
    Published:
    12 March 2022

    DOI: https://doi.org/10.1007/978-3-642-27843-3_79-2

  2. Original

    Inherited Glomerular Diseases
    Published:
    24 November 2014

    DOI: https://doi.org/10.1007/978-3-642-27843-3_79-1

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