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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
Chapter
Information
Pediatric Nephropathology & Childhood Kidney Tumors , pp. 283 - 289
Publisher: Cambridge University Press
Print publication year: 2023

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References

Lennerz, J. K., Spence, D. C., Iskandar, S. S., Dehner, L. P., Liapis, H.. Glomerulocystic kidney: One hundred-year perspective. Arch Pathol Lab Med. 201;134:583–605.Google Scholar
Cramer, M. T., Guay-Woodford, L. M.. Cystic kidney disease: A primer. Adv Chronic Kidney Dis. 2015;22:297–305.CrossRefGoogle ScholarPubMed
Liapis, H., Winyard, P.. Cystic diseases of the kidney and developmental defects. In Jennette, J. C., D’Agati, V. D., Olson, J. L., Silva, F. G., eds. Heptinstall’s Pathology of the Kidney. Chapter 4, 7th ed. Wolters Kluwer.Google Scholar
Rizzoni, G., Loirat, C., Levy, M., Milanesi, C., Zachello, G., Mathieu, H.. Familial hypoplastic glomerulocystic kidney. A new entity? Clin Nephrol. 1982;18:263–68.Google Scholar
Kaplan, B. S., Gordon, I., Pincott, J., Barratt, T. M.. Familial hypoplastic glomerulocystic kidney disease: A definite entity with dominant inheritance. Am J Med Genet. 1989;34:569–73.CrossRefGoogle ScholarPubMed
Bolar, N. A., Golzio, C., Živná, M., Hayot, G., et al. Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia. Am J Hum Genet. 2016;99:174–87.Google Scholar
Rito, M., Cabrera, R. A.. Glomerulocystic kidney presenting as a unilateral kidney mass in a newborn with tuberous sclerosis: Report of a case and review of the literature. Pathol Res Pract. 2017;213:286–91.CrossRefGoogle Scholar
Gusmano, R., Caridi, G., Marini, M., Perfumo, F., et al. Glomerulocystic kidney disease in a family. Nephrol Dial Transplant. 2002;17:813–8.Google Scholar
Zaman, R., Maggi, A., Rajpoot, S. K., Joshi, D. D.. Glomerulocystic kidney disease and hepatoblastoma in an infant: A rare presentation. Case Rep Nephrol Dial. 2015;5:200–3.CrossRefGoogle Scholar
Duval, H., Michel-Calemard, L., Gonzales, M., Loget, P., et al. Fetal anomalies associated with HNF1B mutations: Report of 20 autopsy cases. Prenat Diagn. 2016;36:744–51.Google Scholar
Landau, D., Shalev, H., Shulman, H., Barki, Y., Maor, E., Zmora, E.. Oligohydramnion, renal failure and no pulmonary hypoplasia in glomerulocystic kidney disease. Pediatr Nephrol. 2000;14:319–21.Google Scholar
Wolf, M. T., Hoskins, B. E., Beck, B. B., Hoppe, B., et al. Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). Pediatr Nephrol. 2009;24:55–60.Google Scholar
Rampoldi, L., Caridi, G., Santon, D., Boaretto, F., et al. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet. 2003;12:3369–384.Google Scholar
Bernstein, J.. Glomerulocystic kidney disease--nosological considerations. Pediatr Nephrol. 1993;7:464–70.Google Scholar
Fiorentino, A., Christophorou, A., Massa, F., Garbay, S., et al. Developmental renal glomerular defects at the origin of glomerulocystic disease. Cell Rep. 2020;33:108304.Google Scholar
Georgas, K., Rumballe, B., Valerius, M. T., Chiu, H. S., et al. Analysis of early nephron patterning reveals a role for distal RV proliferation in fusion to the ureteric tip via a cap mesenchyme-derived connecting segment. Dev Biol. 2009;332:273–86.Google Scholar
Liu, J. S., Ishikawa, I., Saito, Y., Nakazawa, T., Tomosugi, N., Ishikawa, Y.. Digital glomerular reconstruction in a patient with a sporadic adult form of glomerulocystic kidney disease. Am J Kidney Dis. 2000;35:216–20.Google Scholar
Anık, A., Çatlı, G., Abacı, A., Böber, E.. Maturity-onset diabetes of the young (MODY): An update. J Pediatr Endocrinol Metab. 2015;28:251–63.Google Scholar
Johnson, S. R., Ellis, J. J., Leo, P. J., Anderson, L. K., et al. Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort. Pediatr Diabetes. 2019;20:57–64.Google Scholar
McDonald, T. J., Colclough, K., Brown, R., Shields, B., et al. Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med. 2011;28:1028–33.Google Scholar
Álvarez-Satta, M., Castro-Sánchez, S., Valverde, D.. Bardet-Biedl syndrome as a chaperonopathy: Dissecting the major role of chaperonin-like BBS proteins (BBS6-BBS10-BBS12). Front Mol Biosci. 2017;4:55–62.CrossRefGoogle ScholarPubMed
Tsang, S. H., Sharma, T.. Autosomal dominant retinitis pigmentosa. Adv Exp Med Biol. 2018;1085:69–77.CrossRefGoogle ScholarPubMed
Shifera, A. S., Kay, C. N.. Early-onset X-linked retinitis pigmentosa in a heterozygous female harboring an intronic donor splice site mutation in the retinitis pigmentosa GTPase regulator gene. Ophthalmic Genet. 2015;36:251–6.Google Scholar
Guay-Woodford, L. M., Galliani, C. A., Musulman-Mroczek, E., Spear, G.S., Guillot, A.P., Bernstein, J.. Diffuse renal cystic disease in children: Morphologic and genetic correlations. Pediatr Nephrol. 1998;12:173–82.Google Scholar
Gimpel, C., Avni, E. F., Breysem, L., Burgmaier, K., et al. Imaging of kidney cysts and cystic kidney diseases in children: An International Working Group Consensus Statement. Radiology. 2019;290:769–82.Google Scholar
Fitch, S. J., Stapleton, F. B.. Ultrasonographic features of glomerulocystic disease in infancy: Similarity to infantile polycystic kidney disease. Pediatr Radiol. 1986;16:400–2.CrossRefGoogle ScholarPubMed
Spence, D. C., Dehner, L. P., Lennerz, J., Liapis, H.. PAX-2 and Tamm-Horsfall immunohistochemistry facilitate the diagnosis of glomerular cysts in bilateral cystic kidneys. Mod Pathol. 2008;21:294a–295a.Google Scholar
Fahim, A.. Retinitis pigmentosa: Recent advances and future directions in diagnosis and management. Curr Opin Pediatr. 2018;30:725–33.CrossRefGoogle ScholarPubMed
Rubin, J. D., Barry, M. A.. Improving molecular therapy in the kidney. Mol Diagn Ther. 2020;24:375–96.Google Scholar

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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
×