Official reprint from UpToDate®
www.uptodate.com ©2017 UpToDate, Inc. and/or its affiliates. All Rights Reserved.

Renal cystic diseases in children

Patrick Niaudet, MD
Section Editor
Tej K Mattoo, MD, DCH, FRCP
Deputy Editor
Melanie S Kim, MD


Renal cysts occur in a variety of diseases in children (table 1). Cysts may be due to nonhereditary fetal malformations or genetic disorders, or, rarely, they may be acquired. Cysts may also occur as an isolated finding or as part of a syndrome.

An overview of the different forms of pediatric renal cystic disease will be reviewed here.


Cystic renal dysplasia, defined by microscopic features, is due to renal parenchymal malformation of the fetal kidney. As a result, the kidney contains primitive ducts and cysts, and nonrenal tissues such as cartilage, fat, and hematopoietic tissue. (See "Overview of congenital anomalies of the kidney and urinary tract (CAKUT)", section on 'Renal parenchymal malformations'.)

Although the nonheritable mechanisms responsible for this disorder remain unclear, an alteration in renal mitogen expression may, in part, underlie the abnormalities in renal parenchymal differentiation. One study of multicystic renal dysplasia, for example, found significant temporal and spatial alterations in insulin-like growth factor and insulin-like growth factor binding protein expression during early fetal life and the postnatal period [1]. The pathogenetic significance of these changes is uncertain.

Cystic dysplasia is also often associated with antenatal obstruction of the urinary tract, which may be associated with posterior urethral valves (PUV) or ureteropelvic junction (UPJ) obstruction. Cystic dysplasia is frequently observed in the atrophic pole of a kidney with duplicated ureters or an ectopic ureterocele.

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:

Subscribers log in here

Literature review current through: Nov 2017. | This topic last updated: Sep 15, 2016.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2017 UpToDate, Inc.
  1. Matsell DG, Bennett T, Armstrong RA, et al. Insulin-like growth factor (IGF) and IGF binding protein gene expression in multicystic renal dysplasia. J Am Soc Nephrol 1997; 8:85.
  2. Ismaili K, Avni FE, Alexander M, et al. Routine voiding cystourethrography is of no value in neonates with unilateral multicystic dysplastic kidney. J Pediatr 2005; 146:759.
  3. Hwang DY, Dworschak GC, Kohl S, et al. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int 2014; 85:1429.
  4. Xi Q, Zhu X, Wang Y, et al. Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling. Prenat Diagn 2016; 36:463.
  5. Schreuder MF. Unilateral anomalies of kidney development: why is left not right? Kidney Int 2011; 80:740.
  6. van Eijk L, Cohen-Overbeek TE, den Hollander NS, et al. Unilateral multicystic dysplastic kidney: a combined pre- and postnatal assessment. Ultrasound Obstet Gynecol 2002; 19:180.
  7. Hayes WN, Watson AR, Trent & Anglia MCDK Study Group. Unilateral multicystic dysplastic kidney: does initial size matter? Pediatr Nephrol 2012; 27:1335.
  8. Rabelo EA, Oliveira EA, Diniz JS, et al. Natural history of multicystic kidney conservatively managed: a prospective study. Pediatr Nephrol 2004; 19:1102.
  9. Siqueira Rabelo EA, Oliveira EA, Silva JM, et al. Ultrasound progression of prenatally detected multicystic dysplastic kidney. Urology 2006; 68:1098.
  10. Ylinen E, Ahonen S, Ala-Houhala M, Wikström S. Nephrectomy for multicystic dysplastic kidney: if and when? Urology 2004; 63:768.
  11. Onal B, Kogan BA. Natural history of patients with multicystic dysplastic kidney-what followup is needed? J Urol 2006; 176:1607.
  12. Guarino N, Casamassima MG, Tadini B, et al. Natural history of vesicoureteral reflux associated with kidney anomalies. Urology 2005; 65:1208.
  13. Merrot T, Lumenta DB, Tercier S, et al. Multicystic dysplastic kidney with ipsilateral abnormalities of genitourinary tract: experience in children. Urology 2006; 67:603.
  14. Dimmick JE, Johnson HW, Coleman GU, Carter M. Wilms tumorlet, nodular renal blastema and multicystic renal dysplasia. J Urol 1989; 142:484.
  15. Noe HN, Marshall JH, Edwards OP. Nodular renal blastema in the multicystic kidney. J Urol 1989; 142:486.
  16. Beckwith JB. Should asymptomatic unilateral multicystic dysplastic kidneys be removed because of the future risk of neoplasia? Pediatr Nephrol 1992; 6:511.
  17. Narchi H. Risk of hypertension with multicystic kidney disease: a systematic review. Arch Dis Child 2005; 90:921.
  18. Husmann DA. Renal dysplasia: the risks and consequences of leaving dysplastic tissue in situ. Urology 1998; 52:533.
  19. Snodgrass WT. Hypertension associated with multicystic dysplastic kidney in children. J Urol 2000; 164:472.
  20. Hains DS, Bates CM, Ingraham S, Schwaderer AL. Management and etiology of the unilateral multicystic dysplastic kidney: a review. Pediatr Nephrol 2009; 24:233.
  21. Cambio AJ, Evans CP, Kurzrock EA. Non-surgical management of multicystic dysplastic kidney. BJU Int 2008; 101:804.
  22. Weinstein A, Goodman TR, Iragorri S. Simple multicystic dysplastic kidney disease: end points for subspecialty follow-up. Pediatr Nephrol 2008; 23:111.
  23. Mansoor O, Chandar J, Rodriguez MM, et al. Long-term risk of chronic kidney disease in unilateral multicystic dysplastic kidney. Pediatr Nephrol 2011; 26:597.
  24. Aslam M, Watson AR, Trent & Anglia MCDK Study Group. Unilateral multicystic dysplastic kidney: long term outcomes. Arch Dis Child 2006; 91:820.
  25. Westland R, Schreuder MF, van der Lof DF, et al. Ambulatory blood pressure monitoring is recommended in the clinical management of children with a solitary functioning kidney. Pediatr Nephrol 2014; 29:2205.
  26. Welch TR, Wacksman J. The changing approach to multicystic dysplastic kidney in children. J Pediatr 2005; 146:723.
  27. Kuwertz-Broeking E, Brinkmann OA, Von Lengerke HJ, et al. Unilateral multicystic dysplastic kidney: experience in children. BJU Int 2004; 93:388.
  28. Kessler OJ, Ziv N, Livne PM, Merlob P. Involution rate of multicystic renal dysplasia. Pediatrics 1998; 102:E73.
  29. Metcalfe PD, Wright JR Jr, Anderson PA. MCDK not excluded by virtue of function on renal scan. Can J Urol 2002; 9:1690.
  30. Narchi H. Risk of Wilms' tumour with multicystic kidney disease: a systematic review. Arch Dis Child 2005; 90:147.
  31. Minevich E, Wacksman J, Phipps L, et al. The importance of accurate diagnosis and early close followup in patients with suspected multicystic dysplastic kidney. J Urol 1997; 158:1301.
  32. Han JH, Lee YS, Kim MJ, et al. Conservative Management of Segmental Multicystic Dysplastic Kidney in Children. Urology 2015; 86:1013.
  33. Lin CC, Tsai JD, Sheu JC, et al. Segmental multicystic dysplastic kidney in children: clinical presentation, imaging finding, management, and outcome. J Pediatr Surg 2010; 45:1856.
  34. Jeon A, Cramer BC, Walsh E, Pushpanathan C. A spectrum of segmental multicystic renal dysplasia. Pediatr Radiol 1999; 29:309.
  35. Gascue C, Katsanis N, Badano JL. Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms. Pediatr Nephrol 2011; 26:1181.
  36. Avni FE, Hall M. Renal cystic diseases in children: new concepts. Pediatr Radiol 2010; 40:939.
  37. Joshi VV, Kasznica J. Clinicopathologic spectrum of glomerulocystic kidneys: report of two cases and a brief review of literature. Pediatr Pathol 1984; 2:171.
  38. Melnick SC, Brewer DB, Oldham JS. Cortical microcystic disease of the kidney with dominant inheritance: a previously undescribed syndrome. J Clin Pathol 1984; 37:494.
  39. Heidet L, Decramer S, Pawtowski A, et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 2010; 5:1079.
  40. Ulinski T, Lescure S, Beaufils S, et al. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 2006; 17:497.
  41. Edghill EL, Oram RA, Owens M, et al. Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease. Nephrol Dial Transplant 2008; 23:627.
  42. Gagnadoux MF, Bacri JL, Broyer M, Habib R. Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? Pediatr Nephrol 1989; 3:50.
  43. Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet 2009; 151C:318.
  44. Odent S, Le Marec B, Toutain A, et al. Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet 1998; 75:389.
  45. Saal S, Faivre L, Aral B, et al. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet 2010; 77:258.
  46. Alexiev BA, Lin X, Sun CC, Brenner DS. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med 2006; 130:1236.
  47. Kyttälä M, Tallila J, Salonen R, et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet 2006; 38:155.
  48. Roume J, Genin E, Cormier-Daire V, et al. A gene for Meckel syndrome maps to chromosome 11q13. Am J Hum Genet 1998; 63:1095.
  49. Arts HH, Knoers NV. Current insights into renal ciliopathies: what can genetics teach us? Pediatr Nephrol 2013; 28:863.
  50. Janssen S, Ramaswami G, Davis EE, et al. Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet 2011; 129:79.
  51. Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest 2009; 119:428.
  52. Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet 2010; 18:8.
  53. McHugh K, Stringer DA, Hebert D, Babiak CA. Simple renal cysts in children: diagnosis and follow-up with US. Radiology 1991; 178:383.
  54. Wallis MC, Lorenzo AJ, Farhat WA, et al. Risk assessment of incidentally detected complex renal cysts in children: potential role for a modification of the Bosniak classification. J Urol 2008; 180:317.
  55. Acquired cystic kidney disease in children undergoing continuous ambulatory peritoneal dialysis. Kyushu Pediatric Nephrology Study Group. Am J Kidney Dis 1999; 34:242.
  56. Franchi-Abella S, Mourier O, Pariente D, et al. Acquired renal cystic disease after liver transplantation in children. Transplant Proc 2007; 39:2601.
  57. Calvo-Garcia MA, Campbell KM, O'Hara SM, et al. Acquired renal cysts after pediatric liver transplantation: association with cyclosporine and renal dysfunction. Pediatr Transplant 2008; 12:666.