Skip to main content Accessibility help
×
Hostname: page-component-78c5997874-g7gxr Total loading time: 0 Render date: 2024-11-14T13:21:08.427Z Has data issue: false hasContentIssue false

Chapter 13 - Autosomal Dominant Polycystic Kidney Disease and Autosomal Recessive Polycystic Kidney Disease

from Section 6 - Cystic Diseases

Published online by Cambridge University Press:  10 August 2023

Helen Liapis
Affiliation:
Ludwig Maximilian University, Nephrology Center, Munich, Adjunct Professor and Washington University St Louis, Department of Pathology and Immunology, Retired Professor
Get access

Summary

Cystic kidney disease is defined broadly by ectasia or dilation of hollow epithelial-lined nephrons and collecting ducts spanning from Bowman’s capsules to the ducts of Bellini. The number of cysts per kidney can range from single (isolated) to innumerous. The distribution of cysts may be focal or diffuse, having widespread organ involvement. Cystogenesis requires two stages: cyst initiation (the triggering event) and cyst expansion (maturation). When this occurs early in life, cysts are considered congenital. They may be sporadically acquired or transmitted in an autosomal dominant (AD) or autosomal recessive (AR) pattern. Historically, congenital and inherited cysts were considered to have disparate etiologies, but gene defects have been recently implicated in the formation of congenital cysts. Cysts may be syndromic (concurrently involving other organ systems in consistent patterns) or non-syndromic. While isolated renal cysts are often asymptomatic, most inherited polycystic cystic diseases (PKD), including ADPKD and ARPKD, symptomatically affect both kidneys (bilateral). In this chapter we focus on ADPKD and ARPKD in children. CAKUT is discussed in Chapter 1, tuberous sclerosis in Chapter 14 and glomerulocystic kidney disease in Chapter 15.

Keywords

Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2023

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Harris, P. C., Torres, V. E.. Polycystic kidney disease, autosomal dominant. In Adam, MP, Ardinger, HH, Pagon, RA, et al. eds. GeneReviews(®). Seattle (WA): University of Washington, Seattle. Copyright © 1993–2020, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993.Google Scholar
Boyer, O., Gagnadoux, M. F., Guest, G., et al. Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth. Pediatr Nephrol. 2007;22:380–8.CrossRefGoogle ScholarPubMed
Brun, M., Maugey-Laulom, B., Eurin, D., Didier, F., Avni, E. F.. Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: A multicenter study. Ultrasound Obstet Gynecol. 2004;24:5561.CrossRefGoogle ScholarPubMed
Reuss, A., Wladimiroff, J. W., Stewart, P. A., Niermeijer, M. F.. Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease. Ultrasound Med Biol. 1990;16:355–9.CrossRefGoogle ScholarPubMed
Subramanian, S., Ahmad, T.. Polycystic Kidney Disease Of Childhood. StatPearls. Treasure Island (FL): StatPearls Publishing. Copyright © 2020, StatPearls Publishing LLC.; 2020.Google Scholar
Bernstein, J.. Classification of renal cysts. Perspect Nephrol Hypertens. 1976;4:730.Google Scholar
Cadnapaphornchai, M. A.. Autosomal dominant polycystic kidney disease in children. Curr Opin Pediatr. 2015;27:193200.CrossRefGoogle ScholarPubMed
Kolb, R. J., Nauli, S. M.. Ciliary dysfunction in polycystic kidney disease: An emerging model with polarizing potential. Front Biosci. 2008;13:4451–66.Google Scholar
Arslanhan, M. D., Gulensoy, D., Firat-Karalar, E. N.. A proximity mapping journey into the biology of the mammalian centrosome/cilium complex. Cells. 2020;9:1390.CrossRefGoogle ScholarPubMed
Wheway, G., Mitchison, H. M.. Opportunities and challenges for molecular understanding of ciliopathies-the 100,000 genomes project. Front Genet. 2019;10:127.CrossRefGoogle ScholarPubMed
Bacallao, R. L., McNeill, H.. Cystic kidney diseases and planar cell polarity signaling. Clin Genet. 2009;75:107–17.Google Scholar
Delling, M., Indzhykulian, A. A., Liu, X., et al. Primary cilia are not calcium-responsive mechanosensors. Nature. 2016;531:656–60.CrossRefGoogle Scholar
Bergmann, C., Guay-Woodford, L. M., Harris, P. C., Horie, S., Peters, D. J. M., Torres, V. E.. Polycystic kidney disease. Nat Rev Dis Primers. 2018;4:50.Google Scholar
Gabow, P. A., Johnson, A. M., Kaehny, W. D., et al. Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int. 1992;41: 131119.CrossRefGoogle ScholarPubMed
Audrézet, M. P., Corbiere, C., Lebbah, S., et al. Comprehensive PKD1 and PKD2 mutation analysis in prenatal autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2016;27:722–9.Google Scholar
Heyer, C. M., Sundsbak, J. L., Abebe, K. Z., et al. Predicted mutation strength of nontruncating PKD1 mutations aids genotype-phenotype correlations in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2016;27:287284.CrossRefGoogle ScholarPubMed
Porath, B., Gainullin, V. G., Cornec-Le Gall, E., et al. Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease. Am J Hum Genet. 2016;98:1193–207.Google Scholar
Cornec-Le Gall, E., Olson, R. J., Besse, W., et al. Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease. Am J Hum Genet. 2018;102:83244.Google Scholar
Zhou, J.. Polycystins and primary cilia: Primers for cell cycle progression. Annu Rev Physiol. 2009;71:83113.CrossRefGoogle ScholarPubMed
Tsiokas, L., Kim, S., Ong, E. C.. Cell biology of polycystin-2. Cell Signal. 2007;19:44453.Google Scholar
Nauli, S. M., Alenghat, F. J., Luo, Y., et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet. 2003;33:12937.Google Scholar
Cornec-Le Gall, E., Audrézet, M. P., Chen, J. M., et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 2013;24:100613.Google Scholar
Hateboer, N., v Dijk, M. A., Bogdanova, N., et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet. 1999;353:1037.CrossRefGoogle ScholarPubMed
Harris, P. C., Bae, K. T., Rossetti, S., et al. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2006;17:3013–19.Google Scholar
Lu, W., Peissel, B., Babakhanlou, H., et al. Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. Nat Genet. 1997;17:179–81.Google Scholar
Wu, G., Markowitz, G. S., Li, L., et al. Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nat Genet. 2000;24:75–8.Google Scholar
Bergmann, C., von Bothmer, J., Ortiz Brüchle, N., et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol. 2011;22:2047–56.Google Scholar
Vujic, M., Heyer, C. M., Ars, E., et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. J Am Soc Nephrol. 2010;21:1097–102.Google Scholar
Rossetti, S., Kubly, V. J., Consugar, M. B., et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease Kidney Int. 2009;75:848–55.Google Scholar
Hopp, K., Ward, C. J., Hommerding, C. J., et al. Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. J Clin Invest. 2012;122:4257–73.Google Scholar
Ong, A. C., Harris, P. C.. A polycystin-centric view of cyst formation and disease: the polycystins revisited. Kidney Int. 2015;88:699710.Google Scholar
Pei, Y., Lan, Z., Wang, K., et al. A missense mutation in PKD1 attenuates the severity of renal disease. Kidney Int. 2012;81:412–17.Google Scholar
Brook-Carter, P. T., Peral, B., Ward, C. J., et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease – A contiguous gene syndrome. Nat Genet. 1994;8:328–32.Google Scholar
Consugar, M. B., Wong, W. C., Lundquist, P. A., et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int. 2008;74:1468–79.Google Scholar
Shamshirsaz, A. A., Reza Bekheirnia, M., Kamgar, M., et al. Autosomal-dominant polycystic kidney disease in infancy and childhood: Progression and outcome. Kidney Int. 2005;68:2218–24.Google Scholar
Chapman, A. B., Devuyst, O., Eckardt, K. U., et al. Autosomal-dominant polycystic kidney disease (ADPKD): Executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2015;88:1727.Google Scholar
McDonald, R. A., Avner, E. D.. Inherited polycystic kidney disease in children. Semin Nephrology. 1991;11:632–42.Google Scholar
Seeman, T., Dusek, J., Vondrichová, H., et al. Ambulatory blood pressure correlates with renal volume and number of renal cysts in children with autosomal dominant polycystic kidney disease. Blood Press Monit. 2003;8:107–10.CrossRefGoogle ScholarPubMed
Graham, P. C., Lindop, G. B.. The anatomy of the renin-secreting cell in adult polycystic kidney disease. Kidney Int. 1988;33:1084–90.Google Scholar
Helal, I., Reed, B., McFann, K., et al. Glomerular hyperfiltration and renal progression in children with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2011;6:2439–43.CrossRefGoogle ScholarPubMed
Euser, A. G., Sung, J. F., Reeves, S.. Fetal imaging prompts maternal diagnosis: autosomal dominant polycystic kidney disease. J Perinatol. 2015;35:537–8.Google Scholar
McBride, L., Wilkinson, C., Jesudason, S.. Management of autosomal dominant polycystic kidney disease (ADPKD) during pregnancy: Risks and challenges. Int J Womens Health. 2020;12:409–22.Google Scholar
Hogan, M. C., Abebe, K., Torres, V. E., et al. Liver involvement in early autosomal-dominant polycystic kidney disease. Clin Gastroenterol Hepatol. 2015;13:155–64.e6.CrossRefGoogle ScholarPubMed
Bae, K. T., Zhu, F., Chapman, A. B., et al. Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort. Clin J Am Soc Nephrol. 2006;1:64–9.Google Scholar
Chebib, F. T., Jung, Y., Heyer, C. M., et al. Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 2016;31:952–60.CrossRefGoogle ScholarPubMed
Chebib, F. T., Harmon, A., Irazabal Mira, M. V., et al. Outcomes and durability of hepatic reduction after combined partial hepatectomy and cyst fenestration for massive polycystic liver disease. J Am Coll Surg. 2016;223:118–26.e1.Google Scholar
Molina, D. K., DiMaio, V. J.. Normal organ weights in men: part II-the brain, lungs, liver, spleen, and kidneys. Am J Forensic Med Pathol. 2012;33:368–72.Google Scholar
Evan, A. P., Gardner, K. D. Jr., Bernstein, J.. Polypoid and papillary epithelial hyperplasia: A potential cause of ductal obstruction in adult polycystic disease. Kidney Int. 1979;16:743–50.Google Scholar
Xue, C., Mei, C. L.. Polycystic kidney disease and renal fibrosis. In Liu, BC, Lan, HY, Lv, LL eds. Renal Fibrosis: Mechanisms and Therapies. Advances in Experimental Medicine and Biology, vol. 1165. Springer, Singapore, pp. 81100.Google Scholar
Colbert, G. B., Elrggal, M. F., Gaur, L., Lerma, E. V.. Update and review of adult polycystic kidney disease. Dis Mon. 2020;66:100887.Google Scholar
Gattone, V. H., 2nd, Wang, X., Harris, P. C., Torres, V. E.. Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med. 2003;9:1323–6.CrossRefGoogle ScholarPubMed
Blair, H. A.. Tolvaptan: A review in autosomal dominant polycystic kidney disease. Drugs. 2019;79:303–13.Google Scholar
Schaefer, F., Mekahli, D., Emma, F., et al. Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: Rationale and design of a two-part, randomized, double-blind, placebo-controlled trial. Eur J Pediatr. 2019;178:1013–21.Google Scholar
Tuli, G., Tessaris, D., Einaudi, S., De Sanctis, L., Matarazzo, P.. Tolvaptan treatment in children with chronic hyponatremia due to inappropriate antidiuretic hormone secretion: A report of three cases. J Clin Res Pediatr Endocrinol. 2017;9:288–92.Google Scholar
Streets, A. J., Prosseda, P. P., Ong, A. C.. Polycystin-1 regulates ARHGAP35-dependent centrosomal RhoA activation and ROCK signaling. JCI Insight. 2020;5(16):e135385.Google Scholar
Gwinn, J. L., Landing, B. H.. Cystic diseases of the kidneys in infants and children. Radiol Clin North Am. 1968;6:191204.Google Scholar
Blyth, H., Ockenden, B. G.. Polycystic disease of kidney and liver presenting in childhood. J Med Genet. 1971;8:257–84.CrossRefGoogle ScholarPubMed
Guay-Woodford, L. M., Bissler, J. J., Braun, M. C., et al. Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: Report of an international conference. J Pediatr. 2014;165:611–17.Google Scholar
Sweeney, W. E., Avner, E. D.. Polycystic kidney disease, autosomal recessive. In Adam, MP, Ardinger, HH, Pagon, RA, et al. eds. GeneReviews(®). Seattle (WA): University of Washington, Seattle. Copyright © 1993–2020, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993.Google Scholar
Zerres, K., Mücher, G., Bachner, L., et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet. 1994;7:429–32.Google Scholar
Lu, H., Galeano, M. C. R., , E. et al. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet. 2017;49:1025–34.Google Scholar
Ward, C. J., Hogan, M. C., Rossetti, S., et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002;30:259–69.CrossRefGoogle ScholarPubMed
Wang, S., Zhang, J., Nauli, S. M., et al. Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia. Mol Cell Biol. 2007;27:3241–52.Google Scholar
Ward, C. J., Yuan, D., Masyuk, T. V., et al. Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Hum Mol Genet. 2003;12:2703–10.Google Scholar
Onuchic, L. F., Furu, L., Nagasawa, Y., et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet. 2002;70:1305–17.Google Scholar
Zhang, J., Wu, M., Wang, S., Shah, J. V., Wilson, P. D., Zhou, J.. Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity. Hum Mol Genet. 2010;19:3306–19.Google Scholar
Menezes, L. F., Cai, Y., Nagasawa, Y., et al. Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm. Kidney Int. 2004;66:1345–55.Google Scholar
Wang, S., Luo, Y., Wilson, P. D., Zhou, G. B. J.. The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area. J Am Soc Nephrol. 2004;15:592602.CrossRefGoogle ScholarPubMed
Burgmaier, K., Kilian, S., Bammens, B., et al. Clinical courses and complications of young adults with autosomal recessive polycystic kidney disease (ARPKD). Sci Rep. 2019;9:7919.Google Scholar
Zerres, K., Hansmann, M., Mallmann, R., Gembruch, U.. Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. Prenat Diagn. 1988;8:215–29.CrossRefGoogle ScholarPubMed
Gimpel, C., Avni, E. F., Breysem, L., 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
Liebau, M. C., Serra, A. L.. Looking at the (w)hole: Magnet resonance imaging in polycystic kidney disease. Pediatr Nephrol. 2013;28:1771–83.Google Scholar
Bergmann, C., Senderek, J., Windelen, E., et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 2005;67:829–48.CrossRefGoogle ScholarPubMed
Rosenbaum, D. M., Korngold, E., Teele, R. L.. Sonographic assessment of renal length in normal children. Am J Roentgenol. 1984;142:467–9.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

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 Dropbox.

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.

Available formats
×