Pediatric Radiology

, Volume 40, Issue 6, pp 939–946 | Cite as

Renal cystic diseases in children: new concepts

  • Fred E. AvniEmail author
  • Michelle Hall


This review highlights the changes that have occurred in the general approach to cystic renal diseases in children. For instance, genetic mutations at the level of the primary cilia are considered as the origin of many renal cystic diseases. Furthermore, these diseases are now included in the spectrum of the hepato-renal fibrocystic diseases. Imaging plays an important role as it helps to detect and characterize many of the cystic diseases based on a detailed sonographic analysis. The diagnosis can be achieved during fetal life or after birth. Hyperechoic kidneys and/or renal cysts are the main sonographic signs leading to such diagnosis. US is able to differentiate between recessive and dominant polycystic kidney diseases, hepatocyte nuclear factor 1 Beta mutation, glomerulocystic kidneys and nephronophtisis. MR imaging can, in selected cases, provide additional information including the progressive associated hepatic changes.


Kidney Cyst US MR Child 


  1. 1.
    Ong AC, Weatley DN (2003) Polycystic kidney disease—the ciliary connection. Lancet 361:774–776CrossRefPubMedGoogle Scholar
  2. 2.
    Gunay-Aygun M (2009) Liver and kidney disease in ciliopathies. Am J Med Genet Part C Semin Med Genet 151C:296–306CrossRefPubMedGoogle Scholar
  3. 3.
    Bissler JJ, Dixon BP (2005) A mechanistic approach to inherited polycystic kidney disease. Pediatr Nephrol 20:558–566CrossRefPubMedGoogle Scholar
  4. 4.
    Chiu MG, Johnson TM, Woolf AS et al (2006) Galectin-3 associated with the primary cilium and modulates cyst growth in congenital PKD. Amer J Pathol 169:1925–1938CrossRefGoogle Scholar
  5. 5.
    Johnson CA, Gissen P, Sergi C (2003) Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. J Med Genet 40:311–319CrossRefPubMedGoogle Scholar
  6. 6.
    Hildebrandt F, Zhou W (2007) Nephronophtisis associated ciliopathies. J Am Soc Nephrol 18:1855–1871CrossRefPubMedGoogle Scholar
  7. 7.
    Salomon R, Saunier S, Niaudet P (2009) Nephronophtisis. Pediatr Nephrol 24:2333–2344CrossRefPubMedGoogle Scholar
  8. 8.
    Woolf AS, Feather SA, Bingham C (2002) Recent insights into kidney diseases associated with glomerular cysts. Pediatr Nephrol 17:229–235CrossRefPubMedGoogle Scholar
  9. 9.
    Bisceglia M, Galliani CA, Senger C et al (2006) Renal cystic diseases: a review. Adv Anat Pathol 13:26–56CrossRefPubMedGoogle Scholar
  10. 10.
    Edghill EL, Bingham C, Ellard S et al (2006) Mutations in hepatocyte nuclear factor-1ß and their related phenotypes. J Med Genet 43:84–90CrossRefPubMedGoogle Scholar
  11. 11.
    Ulinski T, Lescure S, Beaufils S et al (2006) Renal phenotypes related to Hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 17:497–503CrossRefPubMedGoogle Scholar
  12. 12.
    DeCramer S, Parant O, Beaufils S et al (2007) Anomalies of TCF2-gene are the main cause of fetal hyperechogenic kidneys. J Am Soc Nephrol 18:923–933CrossRefPubMedGoogle Scholar
  13. 13.
    Edghill EL, Oram RA, Owens M et al (2008) Hepatocyte nuclear factor-1beta deletions a common cause of renal disease. Nephrol Dial Transplant 23:627–635CrossRefPubMedGoogle Scholar
  14. 14.
    De Bruyn R, Gordon R (2000) Imaging in cystic renal disease. Arch Dis Child 83:401–407CrossRefPubMedGoogle Scholar
  15. 15.
    Avni FE, Garel L, Cassart M et al (2006) Perinatal assessment of hereditary cystic renal diseases: the contribution of sonography. Pediatr Radiol 35:405–414CrossRefGoogle Scholar
  16. 16.
    Rizk D, Chapman AB (2003) Cystic and inherited kidney diseases. Am J Kidney Dis 42:1305–1317CrossRefPubMedGoogle Scholar
  17. 17.
    Deshpande C, Hennekam RCM (2008) Genetic syndromes and prenatally detected renal anomalies. Semin Fetal Neonatal Med 13:171–180CrossRefPubMedGoogle Scholar
  18. 18.
    Winyard P, Chitty LS (2008) Dysplastic kidneys. Semin Fetal Neonatal Med 13:142–151CrossRefPubMedGoogle Scholar
  19. 19.
    Cohen HL, Cooper J, Eisenberg P et al (1991) Normal length of fetal kidneys: sonographic study in 397 obsterric patients. AJR 157:545–548PubMedGoogle Scholar
  20. 20.
    De Bruyn R, Marks SD (2008) Post natal investigation of fetal renal disease. Semin Fetal Neonatal Med 12:133–141Google Scholar
  21. 21.
    Tsatsaris V, Gagnadoux MF, Aubry MC et al (2002) Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. It is possible to predict long-term outcome? BJOG 109:1388–1393CrossRefPubMedGoogle Scholar
  22. 22.
    Chaumoitre K, Brun M, Cassart M et al (2006) Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: a multicenter study. Ultrasound Obstet Gynecol 28:911–917CrossRefPubMedGoogle Scholar
  23. 23.
    Ickowicz V, Eurin D, Maugey-Laulom B et al (2006) Meckel-Gruber syndrome:sonography and pathology. Ultrasound Obstet Gynecol 27:296–300CrossRefPubMedGoogle Scholar
  24. 24.
    Cassart M, Eurin D, Didier F et al (2004) Antenatal renal sonographic anomalies and post-natal follow-up of renal involvement in Bardet-Biedl syndrome. Ultrasound Obstet Gynecol 24:51–54CrossRefPubMedGoogle Scholar
  25. 25.
    Decramer S, Parant O, Beaufils S et al (2007) Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol 18:923–933CrossRefPubMedGoogle Scholar
  26. 26.
    Brun M, Maugey-Laulom B, Eurin D et al (2004) Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a mulitcenter study. Ultrasound Obstet Gynecol 24:55–61CrossRefPubMedGoogle Scholar
  27. 27.
    Slovis TL, Bernstein J, Gruskin A (1993) Hyperechoic kidneys in the newborn and young infant. Pediatr Nephrol 7:294–302CrossRefPubMedGoogle Scholar
  28. 28.
    Nortier JL, Debiec H, Tournay Y et al (2006) Neonatal disease in neutral endopeptidase alloimmunization: lessons for immunological monitoring. Pediatr Nephrol 21:1399–1405CrossRefPubMedGoogle Scholar
  29. 29.
    McHugh K, Stringer DA, Hebert D et al (1991) Simple renal cysts in children: diagnosis and follow-up with US. Radiology 178:383–385PubMedGoogle Scholar
  30. 30.
    Kuwertz-Broeking E, Brinkmann OA, Von Lengerke HJ et al (2004) Unilateral mulitcystic dysplastic kidney: experience in children. BJU Internat 93:388–392CrossRefGoogle Scholar
  31. 31.
    Aslam M, Watson AR (2006) Unilateral mulitcystic dysplastic kidney: long-term outcomes. Arch Dis Child 91:820–823CrossRefPubMedGoogle Scholar
  32. 32.
    Glazier DB, Fleisher MH, Cummings KB et al (1996) Cystic renal disease and tuberous sclerosis in children. Urology 48:613–615CrossRefPubMedGoogle Scholar
  33. 33.
    Neumann HP, Schwarzkopf G, Henske EP (1998) Renal angiomyolipomas, cysts and cancer in TSC. Semin Pediatr Neurol 5:269–275CrossRefPubMedGoogle Scholar
  34. 34.
    Cassart M, Massez A, Metens T et al (2004) Complementary role of MRI after sonography in assessing bilateral urinary tract anomalies in the fetus. AJR 182:684–695Google Scholar
  35. 35.
    Jaim M, LeQuesne GW, Bourne AJ et al (1997) High-resolution ultrasound in the differential diagnosis of cystic diseases of the kidney in infancy and childhood. J Ultrasound Med 16:235–240Google Scholar
  36. 36.
    Traubici J, Daneman A (2005) High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. AJR 184:1630–1633PubMedGoogle Scholar
  37. 37.
    Lipschitz B, Berdon WE, Defelice AR et al (1993) Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease. Report of a family with literature review. Pediatr Radiol 23:131–133CrossRefPubMedGoogle Scholar
  38. 38.
    Premkumar A, Berdon WE, Levy J et al (1988) The emergence of hepatic fibrosis and portal hypertension in infants and children with autosomal recessive polycystic kidney disease. Initial and follow-up sonographic and radiographic findings. Pediatr Radiol 18:123–129CrossRefPubMedGoogle Scholar
  39. 39.
    Avni EF, Guissard G, Hall M et al (2002) Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood. Pediatr Radiol 32:169–174CrossRefPubMedGoogle Scholar
  40. 40.
    Turkbey B, Ocak I, Daryanani K et al (2009) Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol 39:100–111CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.Departments of Medical Imaging and Pediatric NephrologyUniversity Clinics of Brussels—Erasme HospitalBrusselsBelgium
  2. 2.Pediatric Nephrology Erasme HospitalBrusselsBelgium

Personalised recommendations