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小儿肾囊性疾病的遗传和放射学方面:病例系列。

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

机构信息

Servicio de Genética, Fundación Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.

Servicio de Nefrología Pediátrica, Fundación Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.

出版信息

Biomedica. 2024 May 31;44(Sp. 1):27-41. doi: 10.7705/biomedica.7110.

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.

摘要

肾囊性疾病是常见病症,其病因具有高度异质性。为了进行正确的诊断和管理,需要采用适当的方法。我们旨在通过在本医疗服务中管理的一些临床病例,阐述部分肾囊性疾病的临床表现。我们描述了 11 个临床病例,包括肾多囊性发育不良、常染色体显性遗传和常染色体隐性遗传多囊肾病等多种病理类型。肾囊性疾病在临床表现、自然病史、影像学发现以及遗传和病理生理学基础等方面存在异质性。需要采用整体的临床方法,以明确病因诊断,并为患者提供适当的个体化治疗和随访。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9254/11357701/b1b8f1e1acd5/2590-7379-bio-44-s1-7110-gf1.jpg

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