{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T19:57:57Z","timestamp":1772999877319,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Papillorenal syndrome (PAPRS), or renal coloboma syndrome, is a rare autosomal dominant disorder caused by PAX2 mutations. It classically manifests with renal hypodysplasia and optic nerve anomalies. However, recent literature suggests an expanding phenotypic spectrum. We report a 7\u2010year\u20108\u2010month\u2010old boy born to consanguineous parents, presenting with stage 4 chronic kidney disease (CKD), nephrotic\u2010range proteinuria, visual impairment, and ADHD. Renal biopsy revealed focal segmental glomerulosclerosis (FSGS), and ocular examination showed bilateral peripheral scalloped chorioretinal atrophy without optic nerve colobomas. Genetic testing confirmed a pathogenic heterozygous\n                    <jats:italic>PAX2<\/jats:italic>\n                    frameshift mutation (c.69_70insG; p.Val26fs28*), establishing the diagnosis of PAPRS. This case illustrates an expanded phenotype of\n                    <jats:italic>PAX2<\/jats:italic>\n                    \u2010related PAPRS, including FSGS, atypical retinal degeneration, cerebellar hypoplasia, and ADHD. Recognition of such atypical presentations is vital for early diagnosis and multidisciplinary management, especially in resource\u2010limited settings where classic features may be absent.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.72023","type":"journal-article","created":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T03:46:32Z","timestamp":1770867992000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanded Phenotype of\n                    <scp>PAX2<\/scp>\n                    \u2010Related Papillorenal Syndrome: A Case Featuring\n                    <scp>FSGS<\/scp>\n                    , Atypical Retinopathy, Cerebellar Hypoplasia, and\n                    <scp>ADHD<\/scp>"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6394-9008","authenticated-orcid":false,"given":"Nadira","family":"Sultana","sequence":"first","affiliation":[{"name":"Department of Pediatric Nephrology Bangabandhu Sheikh Mujib Medical University  Dhaka Bangladesh"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6308-8159","authenticated-orcid":false,"given":"Abdullah Al","family":"Mamun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Bangabandhu Sheikh Mujib Medical University  Dhaka Bangladesh"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1894-9292","authenticated-orcid":false,"given":"Afroza","family":"Begum","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Bangabandhu Sheikh Mujib Medical University  Dhaka Bangladesh"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,2,11]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajoc.2019.100563"},{"key":"e_1_2_11_3_1","unstructured":"M. A.Bower L. A.Schimmenti andM. R.Eccles \u201cPAX2\u2010Related Disorder. GeneReviews \u201d (2018) https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1451\/."},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.2147\/NDT.S332747"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40001-025-02522-6"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-025-01822-z"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22020"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.102"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.701"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-0741-y"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.799562"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-019-04256-0"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.70006"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241612737"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2021-241708"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.72023","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.72023","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.72023","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T17:24:36Z","timestamp":1772990676000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.72023"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1002\/ccr3.72023"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.72023","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2]]},"assertion":[{"value":"2025-08-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e72023"}}