{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T15:24:07Z","timestamp":1783437847054,"version":"3.54.6"},"reference-count":21,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Pediatr"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage renal disease in children. Diagnosis by genetic testing has proven challenging due to its genetic and phenotypic heterogeneity, as well as incomplete penetrance. We report a case on a 16-months old female with a history of renal cysts and a PAX2 mutation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation:<\/jats:title>\n                    <jats:p>The patient presented with a prenatal diagnosis of Potter sequence and a postnatal diagnosis of renal cysts. An ultrasound at 20\u2009weeks gestation revealed right renal agenesis and possible left renal dysplasia. Post natal genetic analyses identified a novel mutation in PAX2.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Cystic kidney disease is often underdiagnosed due to its variable expressivity and wide range of clinical manifestations; PAX2 genetic screening should be considered for all patients with CAKUT.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/1179556521992354","type":"journal-article","created":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T05:23:07Z","timestamp":1614921787000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":10,"title":["New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report"],"prefix":"10.1177","volume":"15","author":[{"given":"Jessica Maria","family":"Forero-Delgadillo","sequence":"first","affiliation":[{"name":"Pediatric Nephrology Fellow, Universidad Icesi-Fundaci\u00f3n Valle de Lili, Cali, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Ochoa","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Fellow, Universidad Icesi-Fundaci\u00f3n Valle de Lili, Cali, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9745-4241","authenticated-orcid":false,"given":"Natalia","family":"Duque","sequence":"additional","affiliation":[{"name":"Medical student, Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime Manuel","family":"Restrepo","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Departament, Fundaci\u00f3n Valle del Lili, Cali, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hernando","family":"Londo\u00f1o","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Departament, Fundaci\u00f3n Valle del Lili, Cali, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Antonio","family":"Nastasi-Catanese","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Fundaci\u00f3n Valle del Lili, Cali, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Pachajoa","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Fundaci\u00f3n Valle del Lili, Cali, Colombia"},{"name":"Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2021,3,5]]},"reference":[{"key":"bibr1-1179556521992354","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-014-3639-y"},{"key":"bibr2-1179556521992354","first-page":"227","volume":"35","author":"Pachajoa H","journal-title":"Biomedica"},{"key":"bibr3-1179556521992354","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2013.508"},{"key":"bibr4-1179556521992354","first-page":"924","volume":"37","author":"Dillman JR","year":"2017","journal-title":"Radiogr Rev Publ Radiol Soc N Am Inc"},{"key":"bibr5-1179556521992354","first-page":"78","volume":"34","author":"Chung EM","year":"2014","journal-title":"Radiogr Rev Publ Radiol Soc N Am Inc"},{"key":"bibr6-1179556521992354","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2018.00024"},{"key":"bibr7-1179556521992354","unstructured":"Bower MA, Schimmenti LA, Eccles MR. 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