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Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia

  • Glycogen Storage Disease
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Glycogen storage disease type I (GSDI) is a rare genetic pathology characterized by glucose-6 phosphatase (G6Pase) deficiency, translating in hypoglycemia during short fasts. Besides metabolic perturbations, GSDI patients develop long-term complications, especially chronic kidney disease (CKD). In GSDI patients, CKD is characterized by an accumulation of glycogen and lipids in kidneys, leading to a gradual decline in renal function. At a molecular level, the activation of the renin-angiotensin system is responsible for the development of renal fibrosis, eventually leading to renal failure. The same CKD phenotype was observed in a mouse model with a kidney-specific G6Pase deficiency (K.G6pc−/− mice). Furthermore, GSDI patients and mice develop frequently renal cysts at late stages of the nephropathy, classifying GSDI as a potential polycystic kidney disease (PKD). PKDs are genetic disorders characterized by multiple renal cyst formation, frequently caused by the loss of expression of polycystic kidney genes, such as PKD1/2 and PKHD1. Interestingly, these genes are deregulated in K.G6pc−/− kidneys, suggesting their possible role in GSDI cystogenesis. Finally, renal cysts are known to predispose to renal malignancy development. In addition, HNF1B loss is a malignancy prediction factor. Interestingly, Hnf1b expression was decreased in K.G6pc−/− kidneys. While a single case of renal cancer has been reported in a GSDI patient, a clear cell renal carcinoma was recently observed in one K.G6pc−/− mouse (out of 36 studied mice) at a later stage of the disease. This finding highlights the need to further analyze renal cyst development in GSDI patients in order to evaluate the possible associated risk of carcinogenesis, even if the risk might be limited.

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Acknowledgments

We would like to thank the members of Animaleries Lyon Est Conventionnelle et SPF (ALECS, Université Lyon 1, SFR Santé Lyon Est) for the animal care and the members of the Plateforme de Recherche Anatomopathologique– Centre Leon Bérard, Lyon.” We also thank Fabiola Terzi for reading of and editing the article.

Funding

This work was supported by research grants from the Agence Nationale de la Recherche (ANR16-CE14-0022-02) and the Association Francophone des Glycogénoses. LM and MG are recipients of funding of the Fondation pour la Recherche Médicale (FRM grant number ECO20160736048) and the Ligue nationale contre le cancer, respectively.

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Authors and Affiliations

  1. Institut National de la Santé et de la Recherche by Inserm, U1213, 69008, Lyon, France

    Monika Gjorgjieva, Laure Monteillet, Gilles Mithieux & Fabienne Rajas

  2. Université de Lyon, 69008, Lyon, France

    Monika Gjorgjieva, Laure Monteillet, Gilles Mithieux & Fabienne Rajas

  3. Université Lyon1, 69622, Villeurbanne, France

    Monika Gjorgjieva, Laure Monteillet, Gilles Mithieux & Fabienne Rajas

  4. Inserm UMR-1162, Université Paris Descartes, Labex Immuno-Oncology, Université Paris Diderot, Université Paris 13, Paris, France

    Julien Calderaro

  5. APHP, Assistance-Publique Hôpitaux-de-Paris, Département de Pathologie, Hôpital Henri Mondor, 94010, Créteil, France

    Julien Calderaro

  6. Inserm U1213, Université Lyon 1 Laennec, 7 rue Guillaume Paradin, 69372, Lyon Cedex 08, France

    Fabienne Rajas

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  1. Monika Gjorgjieva
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Gjorgjieva, M., Monteillet, L., Calderaro, J. et al. Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia. J Inherit Metab Dis 41, 955–963 (2018). https://doi.org/10.1007/s10545-018-0207-y

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