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
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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.

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[儿科肾囊肿病的遗传和影像学方面:病例系列]。
肾囊肿疾病是一种常见疾病,其病因可能非常复杂,需要采取适当的方法进行诊断和治疗。本研究的目的是通过利利山谷基金会管理的临床病例来说明肾囊肿疾病的部分病谱。本研究描述了 11 个临床病例,包括多囊性肾发育不良、常染色体显性和常染色体隐性多囊肾等疾病。肾囊肿疾病的临床表现、自然病史、影像学检查结果、遗传和病理生理基础各不相同,因此,诊断方法和综合治疗应根据个体情况并结合多学科方法进行。
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