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

Rafael Adrián Pacheco-OrozcoJessica María Forero-DelgadilloVanessa OchoaJuan Sebastián ToroHarry PachajoaJaime Manuel Restrepo
Published in: Biomedica : revista del Instituto Nacional de Salud (2024)
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.
Keyphrases
  • newly diagnosed
  • mental health
  • gene expression
  • genome wide
  • palliative care
  • dna methylation
  • young adults
  • copy number