Genetic and radiological aspects of pediatric renal cystic disease: A case series

Rafael Adrián Pacheco-Orozco, Jessica María Forero-Delgadillo, Vanessa Ochoa, Juan Sebastián Toro, Harry Pachajoa, Jaime Manuel Restrepo, .

Keywords: Polycystic kidney diseases, polycystic kidney, autosomal recessive, polycystic kidney, autosomal dominant, pediatrics, genetics, radiology, diagnostic imaging

Abstract

Renal cystic diseases are common conditions whose etiology can be highly heterogeneous.
They require a correct approach for adequate diagnosis and management. We aimed to illustrate part of the spectrum of renal cystic diseases through some clinical cases managed in our service.
We describe 11 clinical cases including clinical entities such as renal multicystic dysplasia, and autosomal dominant and autosomal recessive polycystic renal disease, among other pathologies.
Renal cystic diseases are heterogeneous in their clinical presentation, natural history, radiological findings, and genetic and pathophysiological basis. An integral clinical approach is needed to get a clear etiological diagnosis and offer adequate individualized care and follow-up for patients.

Downloads

Download data is not yet available.
  • Rafael Adrián Pacheco-Orozco Servicio de Genética, Fundación Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia https://orcid.org/0000-0002-1114-7812
  • Jessica María Forero-Delgadillo Servicio de Nefrología Pediátrica, Fundación Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia https://orcid.org/0000-0002-6526-757X
  • Vanessa Ochoa Servicio de Nefrología Pediátrica, Fundación Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia https://orcid.org/0000-0003-1944-2776
  • Juan Sebastián Toro Servicio de Imágenes Diagnósticas, Fundación Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia https://orcid.org/0000-0002-5396-4693
  • Harry Pachajoa Servicio de Genética, Fundación Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia; Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia https://orcid.org/0000-0003-2672-0439
  • Jaime Manuel Restrepo Servicio de Nefrología Pediátrica, Fundación Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia https://orcid.org/0000-0002-8637-8922

References

Eknoyan G. A clinical view of simple and complex renal cysts. J Am Soc Nephrol. 2009;20:1874-6. https://doi.org/10.1681/ASN.2008040441

Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A. Renal cystic diseases: A review. Adv Anat Pathol. 2006;13:26-56. https://doi.org/10.1097/01.pap.0000201831.77472.d3

Hélénon O, Crosnier A, Verkarre V, Merran S, Méjean A, Correas JM. Simple and complex renal cysts in adults: Classification system for renal cystic masses. Diagn Interv Imaging. 2018;99:189-218. https://doi.org/10.1016/j.diii.2017.10.005

Avni FE, Garel C, Cassart M, D’Haene N, Hall M, Riccabona M. Imaging and classification of congenital cystic renal diseases. AJR Am J Roentgenol. 2012;198:1004-13. https://doi.org/10.2214/AJR.11.8083

Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C. Diagnosis and management of renal cystic disease of the newborn: Core Curriculum 2021. Am J Kidney Dis. 2021;78:125-41. https://doi.org/10.1053/j.ajkd.2020.10.021

Schedl A. Renal abnormalities and their developmental origin. Nat Rev Genet. 2007;8:791-802. https://doi.org/10.1038/nrg2205

Pohl M, Bhatnagar V, Mendoza SA, Nigam SK. Toward an etiological classification of developmental disorders of the kidney and upper urinary tract. Kidney Int. 2002;61:10-9. https://doi.org/10.1046/j.1523-1755.2002.00086.x

Kher KK, Schnaper HW, Greenbaum LA. Clinical Pediatric Nephrology. Third edition. CRC Press; 2017.

Kellum JA, Lameire, KDIGO AKI Guideline Work Group. Diagnosis, evaluation, and management of acute kidney injury: A KDIGO summary (part 1). Crit Care. 2013;17:204. https://doi.org/10.1186/cc11454

Teixeira A, Edery P, Cochat P. Cowden disease and multicystic dysplastic kidney: Increased risk of renal cancer? Clin Kidney J. 2012;5:453-5. https://doi.org/10.1093/ckj/sfs069

Forero-Delgadillo JM, Ochoa V, Duque N, Restrepo JM, Londoño H, Nastasi-Catanese JA, et al. New PAX2 mutation associated with polycystic kidney disease: A case report. Clin Med Insights Pediatr. 2021;15:117955652199235. https://doi.org/10.1177/1179556521992354

Dressler GR, Woolf AS. Pax2 in development and renal disease. Int J Dev Biol. 1999;43:463-8.

Harshman LA, Brophy PD. PAX2 in human kidney malformations and disease. Pediatr Nephrol. 2012;27:1265-75. https://doi.org/10.1007/s00467-011-2053-0

Deng H, Zhang Y, Xiao H, Yao Y, Liu X, Su B, et al. Diverse phenotypes in children with PAX2-related disorder. Mol Genet Genomic Med. 2019;7:e701. https://doi.org/10.1002/mgg3.701

Verhave JC, Bech AP, Wetzels JFM, Nijenhuis T. Hepatocyte nuclear factor 1β-associated kidney disease: More than renal cysts and diabetes. J Am Soc Nephrol. 2016;27:345-53. https://doi.org/10.1681/ASN.2015050544

Izzi C, Dordoni C, Econimo L, Delbarba E, Grati FR, Martin E, et al. Variable expressivity of HNF1B nephropathy, from renal cysts and diabetes to medullary sponge kidney through tubulo-interstitial kidney disease. Kidney Int Rep. 2020;5:2341-50. https://doi.org/10.1016/j.ekir.2020.09.042

Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, et al. 17q12 recurrent deletion syndrome. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews®. Seattle (WA): University of Washington; 1993-2024.

Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Polycystic kidney disease. Nat Rev Dis Primers. 2018;4. https://doi.org/10.1038/s41572-018-0047-y

Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, et al. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet. 2017;49:1025-34. https://doi.org/0.1038/ng.3871

Guay-Woodford LM, Bissler JJ, Braun MC, Bockenhauer D, Cadnapaphornchai MA, Dell KM, et al. Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: Report of an international conference. J Pediatr. 2014;165:611-7. https://doi.org/10.1016/j.jpeds.2014.06.015

Kurschat CE, Müller RU, Franke M, Maintz D, Schermer B, Benzing T. An approach to cystic kidney diseases: The clinician’s view. Nat Rev Nephrol. 2014;10:687-99. https://doi.org/10.1038/nrneph.2014.173

Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019;393:919-35. https://doi.org/10.1016/S0140-6736(18)32782-X

Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group. KDIGO 2024 Clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Int. 2024;105: S117-314. https://doi.org/10.1016/j.kint.2023.10.018

Menezes LF, Germino GG. The pathobiology of polycystic kidney disease from a metabolic viewpoint. Nat Rev Nephrol. 2019;15:735-49. https://doi.org/10.1038/s41581-019-0183-y

Colbert GB, Elrggal ME, Gaur L, Lerma EV. Update and review of adult polycystic kidney disease. Dis Mon. 2020;66:100887. https://doi.org/10.1016/j.disamonth.2019.100887

Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, et al. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat Rev Nephrol. 2019;15:713-26. https://doi.org/10.1038/s41581-019-0155-2

McConnachie DJ, Stow JL, Mallett AJ. Ciliopathies and the Kidney: A review. Am J Kidney Dis. 2021;77:410-9. https://doi.org/10.1053/j.ajkd.2020.08.012

Luo F, Tao YH. Nephronophthisis: A review of genotype-phenotype correlation. Nephrology (Carlton). 2018;23:904-11. https://doi.org/10.1111/nep.13393

Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 2007;18:1855-71. https://doi.org/10.1681/ASN.2006121344

Simms RJ, Eley L, Sayer JA. Nephronophthisis. Eur J Hum Genet. 2009;17:406-16. https://doi.org/10.1038/ejhg.2008.238

Salomon R, Saunier S, Niaudet P. Nephronophthisis. Pediatr Nephrol. 2009;24:2333-44. https://doi.org/10.1007/s00467-008-0840-z

Oud M, Lamers I, Arts H. Ciliopathies: Genetics in pediatric medicine. J Pediatr Genet. 2016;06:018-29. https://doi.org/10.1055/s-0036-1593841

Einstein DM, Singer AA, Paushter DM, Nasif A, Nally JV Jr. Urologic radiology hypoechoic renal pyramids: Sonographic visualization in older children and young adults. Urol Radiol. 1992;13:162-5. https://doi.org/10.1007/BF02924612

Gimpel C, Avni EF, Breysem L, Burgmaier K, Caroli A, Cetiner M, et al. Imaging of kidney cysts and cystic kidney diseases in children: An International Working Group Consensus Statement. Radiology. 2019;290:769-82. https://doi.org/10.1148/radiol.2018181243

Bullich G, Domingo-Gallego A, Vargas I, Ruiz P, Lorente-Grandoso L, Furlano M, et al. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. Kidney Int. 2018;94363-71. https://doi.org/10.1016/j.kint.2018.02.027

How to Cite
1.
Pacheco-Orozco RA, Forero-Delgadillo JM, Ochoa V, Toro JS, Pachajoa H, Restrepo JM. Genetic and radiological aspects of pediatric renal cystic disease: A case series. biomedica [Internet]. 2024 May 31 [cited 2024 Jul. 3];44(Sp. 1):27-41. Available from: https://revistabiomedica.org/index.php/biomedica/article/view/7110

Some similar items:

Published
2024-05-31

Altmetric

Article metrics
Abstract views
Galley vies
PDF Views
HTML views
Other views
Crossref Cited-by logo
QR Code