Abstract

Case Report

Kidney Biopsy in Autosomal Dominant Polycystic Kidney Disease

Laalasa Varanasi*, Gabriel Loeb, Vighnesh Walavalkar, Nebil Mohammed, John Paul Lindsey II, Stephen Gluck, Thomas Lee Chi and Meyeon Park

Published: 19 December, 2023 | Volume 7 - Issue 3 | Pages: 101-105

Proteinuria is an easily quantified biomarker of kidney disease and often a sign of glomerular pathology. Significant proteinuria is uncommon in cystic kidney diseases and should be further evaluated to exclude the presence of another simultaneous kidney disease. While renal biopsy is a valuable part of the diagnostic evaluation of proteinuria, careful consideration of risks and benefits is necessary before proceeding in a patient with bilateral renal cysts. We report the case of a man with Polycystic Kidney Disease (PKD) who was found to have nephrotic-range proteinuria. An ultrasound-guided kidney biopsy revealed evidence of Focal Segmental Glomerulosclerosis (FSGS), which was attributed to hyperfiltration-related injury in the context of extensive kidney cysts. Genetic testing did not reveal a cause of FSGS and showed a variant of uncertain significance in PKD1. We use this case to highlight three important issues that are applicable to patients with PKD: the role of diagnostic evaluation for proteinuria in cystic kidney disease, the feasibility of kidney biopsy despite the presence of bilateral renal cysts, and the roles and limitations of genetic testing in cystic kidney disease and FSGS.

Read Full Article HTML DOI: 10.29328/journal.jcn.1001118 Cite this Article Read Full Article PDF

Keywords:

Polycystic kidney disease; Proteinuria; Kidney biopsy; Genetic testing

References

  1. Spithoven EM, Kramer A, Meijer E, Orskov B, Wanner C, Caskey F, Collart F, Finne P, Fogarty DG, Groothoff JW, Hoitsma A, Nogier MB, Postorino M, Ravani P, Zurriaga O, Jager KJ, Gansevoort RT; ERA-EDTA Registry; EuroCYST Consortium; WGIKD; EuroCYST Consortium; WGIKD. Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease. Kidney Int. 2014 Dec;86(6):1244-52. doi: 10.1038/ki.2014.120. Epub 2014 May 14. PMID: 24827775.
  2. Chapman AB. Autosomal dominant polycystic kidney disease: time for a change? J Am Soc Nephrol. 2007 May;18(5):1399-407. doi: 10.1681/ASN.2007020155. Epub 2007 Apr 11. PMID: 17429048.
  3. Chapman AB, Johnson AM, Gabow PA, Schrier RW. Overt proteinuria and microalbuminuria in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1994 Dec;5(6):1349-54. doi: 10.1681/ASN.V561349. PMID: 7894001.
  4. Park JI, Lee H, An JN, Chin HJ, Kim S. Laparoscopic biopsy-proven lupus nephritis in autosomal dominant polycystic kidney disease. Kidney Res Clin Pract. 2012 Sep;31(3):192-5. doi: 10.1016/j.krcp.2012.06.002. Epub 2012 Jun 26. PMID: 26894026; PMCID: PMC4716091.
  5. Visciano B, Di Pietro RA, Rossano R, Mancini A, Zamboli P, Cianciaruso B, Pisani A. Nephrotic syndrome and autosomal dominant polycystic kidney disease. Clin Kidney J. 2012 Dec;5(6):508-11. doi: 10.1093/ckj/sfs147. Epub 2012 Nov 11. PMID: 26069794; PMCID: PMC4400568.
  6. Klahr S, Breyer JA, Beck GJ, Dennis VW, Hartman JA, Roth D, Steinman TI, Wang SR, Yamamoto ME. Dietary protein restriction, blood pressure control, and the progression of polycystic kidney disease. Modification of Diet in Renal Disease Study Group. J Am Soc Nephrol. 1995 Jun;5(12):2037-47. doi: 10.1681/ASN.V5122037. Erratum in: J Am Soc Nephrol 1995 Oct;6(4):1318. PMID: 7579052.
  7. Oda Y, Sawa N, Hasegawa E, Mizuno H, Kawada M, Sekine A, Hiramatsu R, Yamanouchi M, Hayami N, Suwabe T, Hoshino J, Takaichi K, Kinowaki K, Ohashi K, Fujii T, Ubara Y. PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis. BMC Nephrol. 2019 Aug 28;20(1):337. doi: 10.1186/s12882-019-1524-6. PMID: 31455242; PMCID: PMC6712641.
  8. Stiles KP, Yuan CM, Chung EM, Lyon RD, Lane JD, Abbott KC. Renal biopsy in high-risk patients with medical diseases of the kidney. Am J Kidney Dis. 2000 Aug;36(2):419-33. doi: 10.1053/ajkd.2000.8998. PMID: 10922324.
  9. Whittier WL, Korbet SM. Renal biopsy: update. Curr Opin Nephrol Hypertens. 2004 Nov;13(6):661-5. doi: 10.1097/00041552-200411000-00013. PMID: 15483458.
  10. Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore). 2006 Jan;85(1):1-21. doi: 10.1097/01.md.0000200165.90373.9a. PMID: 16523049.
  11. Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20. PMID: 19914852; PMCID: PMC2818513.
  12. Burgmaier K, Kilian S, Bammens B, Benzing T, Billing H, Büscher A, Galiano M, Grundmann F, Klaus G, Mekahli D, Michel-Calemard L, Milosevski-Lomic G, Ranchin B, Sauerstein K, Schaefer S, Shroff R, Sterenborg R, Verbeeck S, Weber LT, Wicher D, Wühl E, Dötsch J, Schaefer F, Liebau MC. Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD). Sci Rep. 2019 May 28;9(1):7919. doi: 10.1038/s41598-019-43488-w. PMID: 31138820; PMCID: PMC6538621.

Figures:

Figure 1

Figure 1

Figure 1

Figure 2

Similar Articles

Recently Viewed

Read More

Most Viewed

Read More

Help ?