Top

Published in:

01-06-2016 | Pictorial Essay

Inherited renal cystic diseases

Authors: Bohyun Kim, Bernard F. King Jr., Terri J. Vrtiska, Maria V. Irazabal, Vicente E. Torres, Peter C. Harris

Published in: Abdominal Radiology | Issue 6/2016

Abstract

A number of inherited renal diseases present with renal cysts and often lead to end-stage renal disease. With recent advances in genetics, increasing number of genes and mutations have been associated with cystic renal diseases. Although genetic testing can provide a definite diagnosis, it is often reserved for equivocal cases or for ongoing investigational research. Therefore, imaging findings are essential in the routine diagnosis, follow-up, and detection of complications in patients with inherited cystic renal diseases. In this article, the most recent classification, genetic analysis, clinical presentations, and imaging findings of inherited cystic renal diseases will be discussed.

Phillips CA-KM (2013) Renal Cystic diseases. In: Lager DJAN (ed) Practical renal pathology. Philadelphia: Elsevier Saunders, pp 15–46

Torres VEGJ (2012) Cystic diseases of the kidney. In: Taal MWCG, Marsden PA, Skorecki K, Yu ASL, Brenner BM (eds) Brenner and rector’s the kidney, 9th edn. Philadelphia: Elsevier Saunders, pp 1626–1667CrossRef

Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A (2006) Renal cystic diseases: a review. Adv Anat Pathol 13(1):26–56. doi:10.1097/01.pap.0000201831.77472.d3 CrossRefPubMed

Torres VE, Harris PC (2009) Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int 76(2):149–168. doi:10.1038/ki.2009.128 CrossRefPubMedPubMedCentral

Harris PC, Bae KT, Rossetti S, et al. (2006) 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 17(11):3013–3019. doi:10.1681/ASN.2006080835 CrossRefPubMed

Hateboer N, v Dijk MA, Bogdanova N, et al. (1999) Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 353(9147):103–107CrossRefPubMed

Cornec-Le Gall E, Audrezet MP, Chen JM, et al. (2013) Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol 24(6):1006–1013. doi:10.1681/ASN.2012070650 CrossRefPubMedPubMedCentral

Gabow PA, Johnson AM, Kaehny WD, et al. (1990) Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease. Hepatology 11(6):1033–1037CrossRefPubMed

Torres VE, Erickson SB, Smith LH, et al. (1988) The association of nephrolithiasis and autosomal dominant polycystic kidney disease. Am J Kidney Dis 11(4):318–325CrossRefPubMed

10.

Irazabal MV, Rangel LJ, Bergstralh EJ, et al. (2015) Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. J Am Soc Nephrol 26(1):160–172. doi:10.1681/ASN.2013101138 CrossRefPubMedPubMedCentral

11.

Grantham JJ, Torres VE, Chapman AB, et al. (2006) Volume progression in polycystic kidney disease. N Engl J Med 354(20):2122–2130. doi:10.1056/NEJMoa054341 CrossRefPubMed

12.

Torres VE, King BF, Chapman AB, et al. (2007) Magnetic resonance measurements of renal blood flow and disease progression in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 2(1):112–120. doi:10.2215/CJN.00910306 CrossRefPubMed

13.

Pei Y, Obaji J, Dupuis A, et al. (2009) Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol 20(1):205–212. doi:10.1681/ASN.2008050507 CrossRefPubMedPubMedCentral

14.

Pei Y, Hwang YH, Conklin J, et al. (2015) Imaging-based diagnosis of autosomal dominant polycystic kidney disease. J Am Soc Nephrol 26(3):746–753. doi:10.1681/ASN.2014030297 CrossRefPubMedPubMedCentral

15.

Tan YC, Blumenfeld J (1812) Rennert H (2011) Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs. Biochim Biophys Acta 10:1202–1212. doi:10.1016/j.bbadis.2011.03.002

16.

Jouret F, Lhommel R, Devuyst O, et al. (2012) Diagnosis of cyst infection in patients with autosomal dominant polycystic kidney disease: attributes and limitations of the current modalities. Nephrol Dial Transplant 27(10):3746–3751. doi:10.1093/ndt/gfs352 CrossRefPubMed

17.

Keith DS, Torres VE, King BF, Zincki H, Farrow GM (1994) Renal cell carcinoma in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 4(9):1661–1669PubMed

18.

Bernstein J, Evan AP, Gardner KD Jr (1987) Human cystic kidney diseases: epithelial hyperplasia in the pathogenesis of cysts and tumors. Pediatr Nephrol 1(3):393–396CrossRefPubMed

19.

Rizk DCA (2005) Polycystic and other cystic renal diseases. In: Greenberg ACA, Falk RJ, Coffman TM, Jennette JC (eds) Primer on kidney diseases. Philadelphia: Saunders, pp 356–362

20.

Guay-Woodford LM, Desmond RA (2003) Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics 111(5 Pt 1):1072–1080CrossRefPubMed

21.

Adeva M, El-Youssef M, Rossetti S, et al. (2006) Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore) 85(1):1–21. doi:10.1097/01.md.0000200165.90373.9a CrossRef

22.

Kaariainen H, Jaaskelainen J, Kivisaari L, Koskimies O, Norio R (1988) Dominant and recessive polycystic kidney disease in children: classification by intravenous pyelography, ultrasound, and computed tomography. Pediatr Radiol 18(1):45–50CrossRefPubMed

23.

Eckardt KU, Alper SL, Antignac C, et al. (2015) Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management–A KDIGO consensus report. Kidney Int 88(4):676–683. doi:10.1038/ki.2015.28 CrossRefPubMed

24.

Igarashi P, Shao X, McNally BT, Hiesberger T (2005) Roles of HNF-1beta in kidney development and congenital cystic diseases. Kidney Int 68(5):1944–1947. doi:10.1111/j.1523-1755.2005.00625.x CrossRefPubMed

25.

Bockenhauer D, Jaureguiberry G (2015) HNF1B-associated clinical phenotypes: the kidney and beyond. Pediatr Nephrol . doi:10.1007/s00467-015-3142-2

26.

Faguer S, Chassaing N, Bandin F, et al. (2014) The HNF1B score is a simple tool to select patients for HNF1B gene analysis. Kidney Int 86(5):1007–1015. doi:10.1038/ki.2014.202 CrossRefPubMed

27.

Hildebrandt F, Attanasio M, Otto E (2009) Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 20(1):23–35. doi:10.1681/ASN.2008050456 CrossRefPubMedPubMedCentral

28.

Gambaro G, Feltrin GP, Lupo A, et al. (2006) Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s. Kidney Int 69(4):663–670. doi:10.1038/sj.ki.5000035 CrossRefPubMed

29.

Northrup H, Krueger DA (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49(4):243–254. doi:10.1016/j.pediatrneurol.2013.08.001 CrossRefPubMedPubMedCentral

30.

Liapis HWP (2015) Cystic disease and developmental kidney defects. In: Jennette JCOJ, Silva FG, D’Agati VD (eds) Heptinstall’s pathology of the kidney. Philadelphia: Wolters Kluwer, pp 119–171

31.

Ding Y, Chen L, Deng FM, et al. (2013) Localized cystic disease of the kidney: distinction from cystic neoplasms and hereditary polycystic diseases. Am J Surg Pathol 37(4):506–513. doi:10.1097/PAS.0b013e318271eff9 CrossRefPubMed

32.

Torres VE, Harris PC, Pirson Y (2007) Autosomal dominant polycystic kidney disease. Lancet 369(9569):1287–1301. doi:10.1016/S0140-6736(07)60601-1 CrossRefPubMed

Title: Inherited renal cystic diseases
Authors: Bohyun Kim
Bernard F. King Jr.
Terri J. Vrtiska
Maria V. Irazabal
Vicente E. Torres
Peter C. Harris
Publication date: 01-06-2016
Publisher: Springer US
Published in: Abdominal Radiology / Issue 6/2016
Print ISSN: 2366-004X
Electronic ISSN: 2366-0058
DOI: https://doi.org/10.1007/s00261-016-0754-3

ACC 2024 Congress Coverage

Heart Failure Video

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Inherited renal cystic diseases

Abstract

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 6/2016

CT negative attenuation pixel distribution and texture analysis for detection of fat in small angiomyolipoma on unenhanced CT

Cross-sectional imaging following surgical interventions for stress urinary incontinence in females

Determination of a cutoff attenuation value on single-phase contrast-enhanced CT for characterizing adrenal nodules via chemical shift MRI

MR urography in children and adolescents: techniques and clinical applications

Percutaneous microwave ablation of T1a and T1b renal cell carcinoma: short-term efficacy and complications with emphasis on tumor complexity and single session treatment

Introduction to the special focus section: kidney

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page