Skip to main content
SpringerLink
Log in

Renal cystic diseases in children: new concepts

  • Review
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7
Fig. 8
Fig. 9

Similar content being viewed by others

References

  1. Ong AC, Weatley DN (2003) Polycystic kidney disease—the ciliary connection. Lancet 361:774–776

    Article  CAS  PubMed  Google Scholar 

  2. Gunay-Aygun M (2009) Liver and kidney disease in ciliopathies. Am J Med Genet Part C Semin Med Genet 151C:296–306

    Article  CAS  PubMed  Google Scholar 

  3. Bissler JJ, Dixon BP (2005) A mechanistic approach to inherited polycystic kidney disease. Pediatr Nephrol 20:558–566

    Article  PubMed  Google Scholar 

  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 169:1925–1938

    Article  CAS  Google Scholar 

  5. Johnson CA, Gissen P, Sergi C (2003) Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. J Med Genet 40:311–319

    Article  CAS  PubMed  Google Scholar 

  6. Hildebrandt F, Zhou W (2007) Nephronophtisis associated ciliopathies. J Am Soc Nephrol 18:1855–1871

    Article  CAS  PubMed  Google Scholar 

  7. Salomon R, Saunier S, Niaudet P (2009) Nephronophtisis. Pediatr Nephrol 24:2333–2344

    Article  PubMed  Google Scholar 

  8. Woolf AS, Feather SA, Bingham C (2002) Recent insights into kidney diseases associated with glomerular cysts. Pediatr Nephrol 17:229–235

    Article  PubMed  Google Scholar 

  9. Bisceglia M, Galliani CA, Senger C et al (2006) Renal cystic diseases: a review. Adv Anat Pathol 13:26–56

    Article  PubMed  Google Scholar 

  10. Edghill EL, Bingham C, Ellard S et al (2006) Mutations in hepatocyte nuclear factor-1ß and their related phenotypes. J Med Genet 43:84–90

    Article  CAS  PubMed  Google Scholar 

  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 17:497–503

    Article  CAS  PubMed  Google Scholar 

  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 18:923–933

    Article  CAS  PubMed  Google Scholar 

  13. Edghill EL, Oram RA, Owens M et al (2008) Hepatocyte nuclear factor-1beta deletions a common cause of renal disease. Nephrol Dial Transplant 23:627–635

    Article  CAS  PubMed  Google Scholar 

  14. De Bruyn R, Gordon R (2000) Imaging in cystic renal disease. Arch Dis Child 83:401–407

    Article  PubMed  Google Scholar 

  15. Avni FE, Garel L, Cassart M et al (2006) Perinatal assessment of hereditary cystic renal diseases: the contribution of sonography. Pediatr Radiol 35:405–414

    Article  Google Scholar 

  16. Rizk D, Chapman AB (2003) Cystic and inherited kidney diseases. Am J Kidney Dis 42:1305–1317

    Article  PubMed  Google Scholar 

  17. Deshpande C, Hennekam RCM (2008) Genetic syndromes and prenatally detected renal anomalies. Semin Fetal Neonatal Med 13:171–180

    Article  CAS  PubMed  Google Scholar 

  18. Winyard P, Chitty LS (2008) Dysplastic kidneys. Semin Fetal Neonatal Med 13:142–151

    Article  PubMed  Google Scholar 

  19. Cohen HL, Cooper J, Eisenberg P et al (1991) Normal length of fetal kidneys: sonographic study in 397 obsterric patients. AJR 157:545–548

    CAS  PubMed  Google Scholar 

  20. De Bruyn R, Marks SD (2008) Post natal investigation of fetal renal disease. Semin Fetal Neonatal Med 12:133–141

    Google Scholar 

  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 109:1388–1393

    Article  CAS  PubMed  Google Scholar 

  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 28:911–917

    Article  CAS  PubMed  Google Scholar 

  23. Ickowicz V, Eurin D, Maugey-Laulom B et al (2006) Meckel-Gruber syndrome:sonography and pathology. Ultrasound Obstet Gynecol 27:296–300

    Article  CAS  PubMed  Google Scholar 

  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 24:51–54

    Article  CAS  PubMed  Google Scholar 

  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 18:923–933

    Article  CAS  PubMed  Google Scholar 

  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 24:55–61

    Article  CAS  PubMed  Google Scholar 

  27. Slovis TL, Bernstein J, Gruskin A (1993) Hyperechoic kidneys in the newborn and young infant. Pediatr Nephrol 7:294–302

    Article  CAS  PubMed  Google Scholar 

  28. Nortier JL, Debiec H, Tournay Y et al (2006) Neonatal disease in neutral endopeptidase alloimmunization: lessons for immunological monitoring. Pediatr Nephrol 21:1399–1405

    Article  PubMed  Google Scholar 

  29. McHugh K, Stringer DA, Hebert D et al (1991) Simple renal cysts in children: diagnosis and follow-up with US. Radiology 178:383–385

    CAS  PubMed  Google Scholar 

  30. Kuwertz-Broeking E, Brinkmann OA, Von Lengerke HJ et al (2004) Unilateral mulitcystic dysplastic kidney: experience in children. BJU Internat 93:388–392

    Article  CAS  Google Scholar 

  31. Aslam M, Watson AR (2006) Unilateral mulitcystic dysplastic kidney: long-term outcomes. Arch Dis Child 91:820–823

    Article  CAS  PubMed  Google Scholar 

  32. Glazier DB, Fleisher MH, Cummings KB et al (1996) Cystic renal disease and tuberous sclerosis in children. Urology 48:613–615

    Article  CAS  PubMed  Google Scholar 

  33. Neumann HP, Schwarzkopf G, Henske EP (1998) Renal angiomyolipomas, cysts and cancer in TSC. Semin Pediatr Neurol 5:269–275

    Article  CAS  PubMed  Google Scholar 

  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 182:684–695

    Google Scholar 

  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 16:235–240

    Google Scholar 

  36. Traubici J, Daneman A (2005) High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. AJR 184:1630–1633

    PubMed  Google Scholar 

  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 23:131–133

    Article  CAS  PubMed  Google Scholar 

  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 18:123–129

    Article  CAS  PubMed  Google Scholar 

  39. Avni EF, Guissard G, Hall M et al (2002) Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood. Pediatr Radiol 32:169–174

    Article  PubMed  Google Scholar 

  40. Turkbey B, Ocak I, Daryanani K et al (2009) Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol 39:100–111

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Medical Imaging and Pediatric Nephrology, University Clinics of Brussels—Erasme Hospital, 808 Route de Lennik, 1070, Brussels, Belgium

    Fred E. Avni

  2. Pediatric Nephrology Erasme Hospital, Brussels, Belgium

    Michelle Hall

Authors
  1. Fred E. Avni
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Michelle Hall
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Fred E. Avni.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Avni, F.E., Hall, M. Renal cystic diseases in children: new concepts. Pediatr Radiol 40, 939–946 (2010). https://doi.org/10.1007/s00247-010-1599-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00247-010-1599-5

Keywords

Search

Navigation