{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T01:04:10Z","timestamp":1789434250757,"version":"build-2803163510"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T00:00:00Z","timestamp":1782518400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"content-version":"vor","delay-in-days":80,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Pierpont syndrome is a rare autosomal dominant disorder caused by pathogenic variants in\n                      <jats:italic>TBL1XR1<\/jats:italic>\n                      gene, characterized by distinctive craniofacial features, plantar lipomatosis, and neurodevelopmental disorders. Urological malformations were reported, but signifcant kidney function impairment has never been described in previous cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>We report an 8-year-old girl with bilateral dysplastic kidneys identified in neonatal period and progression to kidney failure, requiring peritoneal dialysis from age four. Subsequent genetic evaluation confirmed a diagnosis of Pierpont Syndrome. Her course was complicated by recurrent inguinal hernia, peritoneal dialysate leakage, and respiratory compromise related to central and obstructive apnoea. She has been enlisted for kidney transplantation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Although causality cannot be established, the concurrence of bilateral dysplastic kidneys and kidney failure in this rare genetic disorder raises important clinical questions. The case also highlights the importance of mutlidisciplinary care in dialysis and transplant planning. Further studies are required to clarify the potential role of\n                      <jats:italic>TBL1XR1<\/jats:italic>\n                      gene in kidney development and long-term outcomes in Pierpont syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12882-026-05152-0","type":"journal-article","created":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T12:25:52Z","timestamp":1782563152000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Kidney failure in a child with Pierpont syndrome: a case report highlight challenges in kidney replacement therapy"],"prefix":"10.1186","volume":"27","author":[{"given":"Sze Wa","family":"Wong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pak Chiu","family":"Tong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josephine Shuk Ching","family":"Chong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lettie Chuk Kwan","family":"Leung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1463-6005","authenticated-orcid":false,"given":"Eugene Yu Hin","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison Lap Tak","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,27]]},"reference":[{"issue":"1998010675:118","key":"5152_CR1","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1002\/(SICI)1096-8628","volume":"75","author":"MEM Pierpont","year":"1998","unstructured":"Pierpont MEM, Stewart FJ, Gorlin RJ. Plantar lipomatosis, unusual facial phenotype and developmental delay: A new MCA\/MR syndrome. Am J Med Genet. 1998;75(1998010675:118):18\u201321. https:\/\/doi.org\/10.1002\/(SICI)1096-8628(19980106)75:1%3C18::AID-AJMG5%3E3.0.CO;2-M.","journal-title":"Am J Med Genet"},{"key":"5152_CR2","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1136\/jmedgenet-2015-103233","volume":"53","author":"CA Heinen","year":"2016","unstructured":"Heinen CA, Jongejan A, Watson PJ, et al. A specific mutation in TBL1XR1 causes Pierpont syndrome. J Med Genet. 2016;53:330\u20137. https:\/\/doi.org\/10.1136\/jmedgenet-2015-103233.","journal-title":"J Med Genet"},{"key":"5152_CR3","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1055\/s-0042-1745808","volume":"20","author":"S Bajaj","year":"2022","unstructured":"Bajaj S, Gadgil P, Seenappa V, et al. Novel De Novo TBL1XR1 Variant Causing PIERPONT Syndrome in an Indian Child: A Case Report and Genotype\u2013Phenotype Review of Reported Patients. J Pediatr Neurol. 2022;20:423\u20138. https:\/\/doi.org\/10.1055\/s-0042-1745808.","journal-title":"J Pediatr Neurol"},{"key":"5152_CR4","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1097\/MCD.0000000000000184","volume":"26","author":"A-K Kahlert","year":"2017","unstructured":"Kahlert A-K, Weidensee S, Mackenroth L, et al. Pierpont syndrome: report of a new patient. Clin Dysmorphol. 2017;26:205\u20138. https:\/\/doi.org\/10.1097\/MCD.0000000000000184.","journal-title":"Clin Dysmorphol"},{"key":"5152_CR5","doi-asserted-by":"publisher","first-page":"115","DOI":"10.3171\/2012.10.PEDS12219","volume":"11","author":"S Vadivelu","year":"2013","unstructured":"Vadivelu S, Edelman M, Schneider SJ, et al. Choroid plexus papilloma and Pierpont syndrome: Case report. 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Ethical Approval has been obtained from the Central Institutional Review Board of Hospital Authority, Hong Kong [Ref No.: PAED-2025-009].","order":1,"name":"Ethics","label":"Ethical approval","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from patient\u2019s mother, who is her legal guardian.","order":2,"name":"Ethics","label":"Consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from patient\u2019s mother, who is her legal guardian, for her personal or clinical details along with clinical photos to be published in this study.","order":3,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"537"}}