{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T11:44:46Z","timestamp":1793187886415,"version":"4.5.0"},"reference-count":14,"publisher":"Bioscientifica","issue":"1","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,1,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>Kabuki syndrome is a genetic disorder characterised by distinctive facial features, developmental delays, and multisystem congenital anomalies. Endocrine complications such as premature thelarche and short stature are common, whereas disorders of glycaemic control are less frequent. We describe a 23-year-old white female referred to the diabetes clinic for hyperglycaemia during haemodialysis. She was subsequently diagnosed with Kabuki syndrome based on characteristic clinical features, confirmed by detecting a heterozygous pathogenic variant in KMT2D. She was known to have had multiple congenital anomalies at birth, including complex congenital heart disease and a single dysplastic ectopic kidney, and received a cadaveric transplanted kidney at the age of 13. She had hyperglycaemia consistent with post-transplant diabetes mellitus (DM) and was started on insulin. Examination at the time revealed truncal obesity. She developed acute graft rejection and graft failure 14 months post-transplant and she was started on haemodialysis. Her blood glucose levels normalised post-graft explant, but she was hyperglycaemic again during haemodialysis at the age of 23. Given her clinical phenotype, negative diabetes antibodies and normal pancreas on ultrasound, she was assumed to have type 2 DM and achieved good glycaemic control with gliclazide.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>Involve clinical genetics early in the investigative pathway of sick neonates born with multiple congenital anomalies to establish a diagnosis to direct medical care.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Consider the possibility of Kabuki syndrome (KS) in the differential diagnoses in any neonate with normal karyotyping or microarray analysis and with multiple congenital anomalies (especially cardiac, renal, or skeletal), dysmorphic facial features, transient neonatal hypoglycaemia and failure to thrive.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Consider the possibility of diabetes as an endocrine complication in KS patients who are obese or who have autoimmune disorders.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-23-0133","type":"journal-article","created":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T08:46:56Z","timestamp":1706518016000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":2,"title":["Diabetes mellitus in Kabuki syndrome 1 on a background of post-transplant diabetes mellitus"],"prefix":"10.1530","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-9467-6118","authenticated-orcid":true,"given":"S","family":"Chew Sue Mei","sequence":"first","affiliation":[{"name":"Wolfson Diabetes and Endocrine Clinic, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Pritchard","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Grayton","sequence":"additional","affiliation":[{"name":"Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Simonicova","sequence":"additional","affiliation":[{"name":"Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S M","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2797-3385","authenticated-orcid":true,"given":"A I","family":"Adler","sequence":"additional","affiliation":[{"name":"Wolfson Diabetes and Endocrine Clinic, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK"},{"name":"University of Oxford Diabetes Trials Unit, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Journal of Medical Genetics","first-page":"89","article-title":"Kabuki syndrome: international consensus diagnostic criteria","volume":"56","author":"Adam","year":"2019","unstructured":"Adam MPBanka SBjornsson HTBodamer OChudley AEHarris JKawame HLanpher BCLindsley AWMerla G, et al.Kabuki syndrome: international consensus diagnostic criteria. 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(https:\/\/doi.org\/10.1007\/s00467-021-05216-3)"},{"key":"bib4","series-title":"Clinical Case Reports","first-page":"e05736","article-title":"Diabetes mellitus and insulin resistance associated with Kabuki syndrome-A case report and literature review","volume":"10","author":"Thewjitcharoen","year":"2022","unstructured":"Thewjitcharoen YWanothayaroj ENakasatien SKrittiyawong SKhurana IEl-Osta A & Himathongkam T. Diabetes mellitus and insulin resistance associated with Kabuki syndrome-A case report and literature review. Clinical Case Reports202210e05736. (https:\/\/doi.org\/10.1002\/ccr3.5736)"},{"key":"bib5","series-title":"Diabetes Research and Clinical Practice","first-page":"25","article-title":"A case showing an association between type 1 diabetes mellitus and Kabuki syndrome","volume":"60","author":"Fujishiro","year":"2003","unstructured":"Fujishiro MOgihara TTsukuda KShojima NFukushima YKimura SOka Y & Asano T. 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(https:\/\/doi.org\/10.1373\/clinchem.2010.148221)"},{"key":"bib8","series-title":"American Journal of Medical Genetics","first-page":"675","article-title":"Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong","volume":"185","author":"So","year":"2021","unstructured":"So PLLuk HMYu KPTCheng SSWHau EWLHo SKLLam STS & Lo IFM. Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong. American Journal of Medical Genetics2021185675\u2013686. (https:\/\/doi.org\/10.1002\/ajmg.a.62003)"},{"key":"bib9","series-title":"eLife","first-page":"e01503","article-title":"H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation","volume":"2","author":"Lee","year":"2013","unstructured":"Lee JEWang CXu SCho YWWang LFeng XBaldridge ASartorelli VZhuang LPeng W, et al.H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation. eLife20132e01503. (https:\/\/doi.org\/10.7554\/eLife.01503)"},{"key":"bib10","series-title":"Hormone Research in Paediatrics","first-page":"510","article-title":"Post-transplantation diabetes mellitus in pediatric patients","volume":"93","author":"Grundman","year":"2020","unstructured":"Grundman JBWolfsdorf JI & Marks BE. Post-transplantation diabetes mellitus in pediatric patients. Hormone Research in Paediatrics202093510\u2013518. (https:\/\/doi.org\/10.1159\/000514988)"},{"key":"bib11","series-title":"Pediatric Transplantation","first-page":"599","article-title":"Post-transplant diabetes mellitus in pediatric liver transplantation","volume":"13","author":"Hathout","year":"2009","unstructured":"Hathout EAlonso EAnand RMartz KImseis EJohnston JLopez JChinnock RMcDiarmid S & SPLITStudy Group. Post-transplant diabetes mellitus in pediatric liver transplantation. Pediatric Transplantation200913599\u2013605. (https:\/\/doi.org\/10.1111\/j.1399-3046.2007.00603.x)"},{"key":"bib12","series-title":"American Journal of Transplantation","first-page":"1992","article-title":"Proceedings from an international consensus meeting on posttransplantation diabetes mellitus: recommendations and future directions","volume":"14","author":"Sharif","year":"2014","unstructured":"Sharif AHecking Mde Vries APPorrini EHornum MRasoul-Rockenschaub SBerlakovich GKrebs MKautzky-Willer ASchernthaner G, et al.Proceedings from an international consensus meeting on posttransplantation diabetes mellitus: recommendations and future directions. American Journal of Transplantation2014141992\u20132000. (https:\/\/doi.org\/10.1111\/ajt.12850)"},{"key":"bib13","series-title":"Pediatric Nephrology","first-page":"405","article-title":"New-onset diabetes after kidney transplant in children","volume":"30","author":"Garro","year":"2015","unstructured":"Garro RWarshaw B & Felner E. New-onset diabetes after kidney transplant in children. Pediatric Nephrology201530405\u2013416. (https:\/\/doi.org\/10.1007\/s00467-014-2830-7)"},{"key":"bib14","series-title":"Clinical Journal of the American Society of Nephrology","first-page":"616","article-title":"Undiagnosed","volume":"5","author":"Bergrem","year":"2010","unstructured":"Bergrem HAValderhaug TGHartmann AHjelmesaeth JLeivestad TBergrem H & Jenssen T. Undiagnosed. Clinical Journal of the American Society of Nephrology20105616\u2013622. 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