{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T19:26:45Z","timestamp":1787686005116,"version":"build-2784847793"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T00:00:00Z","timestamp":1745712000000},"content-version":"vor","delay-in-days":116,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"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":["Pediatric Diabetes"],"published-print":{"date-parts":[[2025,1]]},"abstract":"\n Context:<\/jats:bold>\n Mutations in hepatocyte nuclear factor 1B (\n HNF1B<\/jats:italic>\n ) are rare but they are known to cause structural renal disease and diabetes mellitus. There is limited data on pediatric\n HNF1B<\/jats:italic>\n disease.\n <\/jats:p>\n \n Objective:<\/jats:bold>\n To analyze the clinical characteristics of\n HNF1B<\/jats:italic>\n \u2010related disease in a cohort of children identified at a single pediatric tertiary medical center, with a specific focus on endocrine\u2010related disease.\n <\/jats:p>\n \n Methods:<\/jats:bold>\n Subjects with\n HNF1B<\/jats:italic>\n genetic variants were identified from the Children\u2019s Hospital of Philadelphia Atypical Diabetes Registry between 2013 and 2022.\n <\/jats:p>\n \n Results:<\/jats:bold>\n Of the 11 pediatric subjects with\n HNF1B<\/jats:italic>\n mutations or deletions, 7 (64%) initially presented with diabetes, sometimes referred to as MODY5, while 4 (36%) were diagnosed based on family history or a genetic evaluation of renal disease. Only one patient presented with diabetic ketoacidosis, and three presented with diabetic ketosis. Of the four children with\n HNF1B<\/jats:italic>\n mutations identified by familial mutation analysis or based on renal disease, two developed diabetes during the course of the study. Abnormalities in fasting lipid profiles were common: 10 with triglycerides >90\u2009mg\/dL, 5 with LDL\u2010C >110\u2009mg\/dL, 5 with HDL\u2010C <45, and 7\/11 with non\u2010HDL cholesterol >120\u2009mg\/dL. Over half of the subjects had hyperparathyroidism with PTH (>65\u2009pg\/mL) and a calcium concentration >9\u2009mg\/dL.\n <\/jats:p>\n \n Conclusion:<\/jats:bold>\n This case series represents one of the largest pediatric\n HNF1B<\/jats:italic>\n \u2010related disease cohorts at a single center. The majority of patients with diabetes presented with clinical features distinct from Type 1 or Type 2 diabetes. Pediatricians should consider genetic testing for\n HNF1B<\/jats:italic>\n mutations when children are diagnosed with diabetes and have renal abnormalities, hyperlipidemia, and hyperparathyroidism.\n <\/jats:p>","DOI":"10.1155\/pedi\/4077604","type":"journal-article","created":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T01:19:30Z","timestamp":1745803170000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Pediatric Hepatocyte Nuclear Factor 1B (\n HNF1B<\/i>\n ) Disease: Diabetes and Endocrine Manifestations"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9727-6123","authenticated-orcid":false,"given":"Meghan","family":"Craven","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4747-6949","authenticated-orcid":false,"given":"Vaneeta","family":"Bamba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4272-1266","authenticated-orcid":false,"given":"Andrew C.","family":"Calabria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7824-2999","authenticated-orcid":false,"given":"Sara E.","family":"Pinney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,27]]},"reference":[{"key":"e_1_2_11_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2020.07.004"},{"key":"e_1_2_11_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-010-1799-4"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-01696"},{"key":"e_1_2_11_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fcdhc.2021.735548"},{"key":"e_1_2_11_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2014.232"},{"key":"e_1_2_11_6_2","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2015050544"},{"key":"e_1_2_11_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-015-3142-2"},{"key":"e_1_2_11_8_2","doi-asserted-by":"crossref","unstructured":"Dubois-LaforgueD. CornuE. andSaint-MartinC. et al.Diabetes Associated Clinical Spectrum Long-Term Prognosis and Genotype\/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (Diabetes Care 2017 40 no. 11 1436\u20131443.","DOI":"10.2337\/dc16-2462"},{"key":"e_1_2_11_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.diabet.2016.10.003"},{"key":"e_1_2_11_10_2","doi-asserted-by":"publisher","DOI":"10.2337\/dc10-S062"},{"key":"e_1_2_11_11_2","first-page":"1","article-title":"CDC Growth Charts for the United States: Methods and Development","volume":"2002","author":"Kuczmarski R. J.","year":"2000","journal-title":"Vital Health Stat"},{"key":"e_1_2_11_12_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-2107C"},{"key":"e_1_2_11_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4677"},{"key":"e_1_2_11_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.04.065"},{"key":"e_1_2_11_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/pedi.12809"},{"key":"e_1_2_11_16_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2013-2795"},{"key":"e_1_2_11_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfm603"},{"key":"e_1_2_11_18_2","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2005101040"},{"key":"e_1_2_11_19_2","article-title":"Longitudinal Association Between Eating Frequency and Hemoglobin A1c and Serum Lipids in Diabetes in the SEARCH for Diabetes in Youth Study","author":"Li C.","year":"2018","journal-title":"Pediatric Diabetes"},{"key":"e_1_2_11_20_2","doi-asserted-by":"publisher","DOI":"10.4088\/PCC.16r01958"},{"key":"e_1_2_11_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/pedi.12959"},{"key":"e_1_2_11_22_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.911526"},{"key":"e_1_2_11_23_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10157-019-01747-0"},{"key":"e_1_2_11_24_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9072320"},{"key":"e_1_2_11_25_2","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2008060633"},{"key":"e_1_2_11_26_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-3453"},{"key":"e_1_2_11_27_2","doi-asserted-by":"publisher","DOI":"10.1111\/dom.12715"},{"key":"e_1_2_11_28_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.023010"},{"key":"e_1_2_11_29_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.8.1829"},{"key":"e_1_2_11_30_2","doi-asserted-by":"publisher","DOI":"10.1111\/petr.12690"},{"key":"e_1_2_11_31_2","doi-asserted-by":"publisher","DOI":"10.1097\/TP.0b013e318230c0d7"},{"key":"e_1_2_11_32_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-2277.2012.01458.x"}],"container-title":["Pediatric Diabetes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/pedi\/4077604","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/pedi\/4077604","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/pedi\/4077604","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T08:11:19Z","timestamp":1772957479000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/pedi\/4077604"}},"subtitle":[],"editor":[{"given":"Rasha","family":"Hamza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/pedi\/4077604"],"URL":"https:\/\/doi.org\/10.1155\/pedi\/4077604","archive":["Portico"],"relation":{},"ISSN":["1399-543X","1399-5448"],"issn-type":[{"value":"1399-543X","type":"print"},{"value":"1399-5448","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2024-05-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"4077604"}}