Abstract
Renal dysplasia and congenital cystic diseases of the kidney encompass a wide variety of conditions with varying presentations. They can be sporadic or inherited disorders and can be isolated to the kidney or can be a part of a condition affecting many organ systems. The clinical significance of these conditions can vary widely, with some patients having incidental discovery of a lesion that may have little to no impact on their lives and other patients having conditions that result in end-stage renal disease or death as a neonate. In this chapter, the clinical presentation, evaluation, and treatment are discussed for each disorder.
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Abbreviations
- ADPKD:
-
Autosomal dominant polycystic kidney disease
- AML:
-
Angiomyolipoma
- ARPKD:
-
Autosomal recessive polycystic kidney disease
- CT:
-
Computed tomography
- ESRD:
-
End-stage renal disease
- JNPH:
-
Juvenile nephronophthisis
- MCDK:
-
Multicystic dysplastic kidney
- MCKD:
-
Medullary cystic kidney disease
- MLCN:
-
Multilocular cystic nephroma
- MRI:
-
Magnetic resonance imaging
- TSC:
-
Tuberous sclerosis complex
- UTI:
-
Urinary tract infection
- VCUG:
-
Voiding cystourethrography
- VHL:
-
Von Hippel-Lindau disease
- VUR:
-
Vesicoureteral reflux
References
Glassberg KI, Stephens FD, Lebowitz RL, et al. Renal dysgenesis and cystic disease of the kidney: a report of the Committee on Terminology, Nomenclature and Classification, Section on Urology, American Academy of Pediatrics. J Urol. 1987;138:1085–92.
Pope IV JC. Renal dysgenesis and cystic disease of the kidney. In: Wein AJ, Kavoussi LR, Partin AW, Peters CA, Novick AC, editors. Campbell-Walsh Urology. 10th ed. Philadelphia: Elsevier Saunders; 2012. Chapter 118.
Peters C, Rushton HG. Vesicoureteral reflux associated renal damage: congenital reflux nephropathy and acquired renal scarring. J Urol. 2010;184:265–73.
Schaefer F, Bakkaloglu SA. Diseases of the kidney and urinary tract in children. In: Taal MW, Chertow GM, Marsden PA, Skorecki K, Yu ASL, Brenner BM, editors. Brenner and Rector's the Kidney, 9th Edition. Philadelphia: Elsevier Saunders, 2012. Chapter 75, p. 2622–79.
Lane PH. Oligomeganephronia. In: Drugs and Diseases. Medscape. 2014. http://emedicine.medscape.com/article/983074-overview. Accessed 28 Jan 2015.
Arant Jr BS, Sotelo-Avila C, Bernstein J. Segmental "hypoplasia" of the kidney. J Pediatr. 1979;95:931–9.
Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A. Renal cystic diseases: a review. Adv Anat Pathol. 2006;13:26–56.
Angtuaco TL, Miller SF, Ferris EJ. Congenital urinary tract abnormalities: prenatal and neonatal diagnosis. Curr Probl Diagn Radiol. 1990;19:165–98.
Calaway AC, Whittam B, Szymanski KM, Misseri R, Kaefer M, Rink RC, et al. Multicystic dysplastic kidney: is an initial voiding cystourethrogram necessary? Can J Urol. 2014;21:7510–4.
Bayram MT, Alaygut D, Soylu A, Serdaroglu E, Cakmakci H, Kavukcu S. Clinical and radiological course of simple renal cysts in children. Urology. 2014;3:433–7.
Israel GM, Bosniak MA. An update of the Bosniak renal cyst classification system. Urology. 2005;66:484–8. doi:10.1016/j.urology.2005.04.003.
Obata Y, Furusu A, Miyazaki M, Nishino T, Kawazu T, Kanamoto Y, et al. Glomerulocystic kidney disease in an adult with enlarged kidneys: a case report and review of the literature. Clin Nephrol. 2011;75:158–64.
Madewell JE, Goldman SM, Davis Jr CJ, Hartman DS, Feigin DS, Lichtenstein JE. Multilocular cystic nephroma: a radiographic-pathologic correlation of 58 patients. Radiology. 1983;146:309–21.
Menezes LF, Cai Y, Nagasawa Y, Silva AM, Watkins ML, Da Silva AM, et al. Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm. Kidney Int. 2004;66:1345–55.
Dell KM. The spectrum of polycystic kidney disease in children. Adv Chronic Kidney Dis. 2011;18:339–47. doi:10.1053/j.ackd.2011.05.001.
Koptides M, Mean R, Demetriou K, Pierides A, Deltas CC. Genetic evidence for a transheterozygous model for cystogenesis in autosomal dominant polycystic kidney disease. Hum Mol Genet. 2000;9:447–52.
Wuthrich RP, Mei C. Pharmacological management of polycystic kidney disease. Expert Opin Pharmacother. 2014;15:1085–95. doi:10.1517/14656566.2014.903923.
Northrup H, Krueger DA. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49:243–54. doi:10.1016/j.pediatrneurol.2013.08.001.
Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics. 2011;127:e117–25. doi:10.1542/peds.2010-0192. Epub 2010 Dec 20.
O' Brien FJ, Danapal M, Jairam S, Lalani AK, Cunningham J, Morrin M, et al. Manifestations of Von Hippel Lindau syndrome: a retrospective national review. Q J Med. 2014;107:291–6. doi:10.1093/qjmed/hct249.
Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990;77:1151–63.
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Mason, M.D., Pope, J.C. (2016). Renal Dysplasia and Congenital Cystic Diseases of the Kidney. In: Barakat, A., Rushton, H. (eds) Congenital Anomalies of the Kidney and Urinary Tract. Springer, Cham. https://doi.org/10.1007/978-3-319-29219-9_4
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DOI: https://doi.org/10.1007/978-3-319-29219-9_4
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