{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T02:51:35Z","timestamp":1773370295802,"version":"3.50.1"},"reference-count":35,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"Sp. 1","license":[{"start":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T00:00:00Z","timestamp":1717113600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T00:00:00Z","timestamp":1717113600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["Biomed."],"abstract":"<jats:p>Las enfermedades qu\u00edsticas renales son condiciones frecuentes cuya etiolog\u00eda puede ser muy heterog\u00e9nea, por lo que se requiere un adecuado abordaje para su diagn\u00f3stico y manejo. El objetivo de este trabajo fue ilustrar parte del espectro de la enfermedad renal qu\u00edstica por medio de casos cl\u00ednicos manejados en la Fundaci\u00f3n Valle del Lili. Se describen 11 casos cl\u00ednicos que incluyen enfermedades como displasia multiqu\u00edstica renal, enfermedad poliqu\u00edstica renal autos\u00f3mica dominante y autos\u00f3mica recesiva, entre otras.Las enfermedades qu\u00edsticas renales var\u00edan en su presentaci\u00f3n cl\u00ednica, historia natural, hallazgos imagenol\u00f3gicos, bases gen\u00e9ticas y fisiopatol\u00f3gicas, por consiguiente, el enfoque diagn\u00f3stico y el manejo integral se debe realizar de forma individualizada y con un abordaje multidisciplinario.<\/jats:p>","DOI":"10.7705\/biomedica.7110","type":"journal-article","created":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T15:40:41Z","timestamp":1722354041000},"page":"27-41","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":2,"title":["Aspectos gen\u00e9ticos e imagenol\u00f3gicos de la enfermedad qu\u00edstica renal en pediatr\u00eda: serie de casos","Genetic and radiological aspects of pediatric renal cystic disease: A case series"],"prefix":"10.7705","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1114-7812","authenticated-orcid":false,"given":"Rafael Adri\u00e1n","family":"Pacheco-Orozco","sequence":"first","affiliation":[{"name":"Servicio de Gen\u00e9tica, Fundaci\u00f3n Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia"},{"name":"Servicio de Gen\u00e9tica, Fundaci\u00f3n Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6526-757X","authenticated-orcid":false,"given":"Jessica Mar\u00eda","family":"Forero-Delgadillo","sequence":"additional","affiliation":[{"name":"Servicio de Nefrolog\u00eda Pedi\u00e1trica, Fundaci\u00f3n Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia"},{"name":"Servicio de Nefrolog\u00eda Pedi\u00e1trica, Fundaci\u00f3n Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1944-2776","authenticated-orcid":false,"given":"Vanessa","family":"Ochoa","sequence":"additional","affiliation":[{"name":"Servicio de Nefrolog\u00eda Pedi\u00e1trica, Fundaci\u00f3n Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia"},{"name":"Servicio de Nefrolog\u00eda Pedi\u00e1trica, Fundaci\u00f3n Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5396-4693","authenticated-orcid":false,"given":"Juan Sebasti\u00e1n","family":"Toro","sequence":"additional","affiliation":[{"name":"Servicio de Im\u00e1genes Diagn\u00f3sticas, Fundaci\u00f3n Valle del Lili, Cali, Colombia;\u00a0Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia"},{"name":"Servicio de Im\u00e1genes Diagn\u00f3sticas, Fundaci\u00f3n Valle del Lili, Cali, Colombia;\u00a0Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2672-0439","authenticated-orcid":false,"given":"Harry","family":"Pachajoa","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Fundaci\u00f3n Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia; Centro de Investigaciones en Anomal\u00edas Cong\u00e9nitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia"},{"name":"Servicio de Gen\u00e9tica, Fundaci\u00f3n Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia; Centro de Investigaciones en Anomal\u00edas Cong\u00e9nitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8637-8922","authenticated-orcid":false,"given":"Jaime Manuel","family":"Restrepo","sequence":"additional","affiliation":[{"name":"Servicio de Nefrolog\u00eda Pedi\u00e1trica, Fundaci\u00f3n Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia"},{"name":"Servicio de Nefrolog\u00eda Pedi\u00e1trica, Fundaci\u00f3n Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4444","published-online":{"date-parts":[[2024,5,31]]},"reference":[{"key":"135319","doi-asserted-by":"crossref","unstructured":"Eknoyan G. 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