María E Andrés, Malena Silberkasten, Nuria Grimberg, Yesica Domínguez, Erika San Martin
{"title":"伴有 1 型糖尿病的歌舞伎综合征:三个病例的报告。","authors":"María E Andrés, Malena Silberkasten, Nuria Grimberg, Yesica Domínguez, Erika San Martin","doi":"10.5546/aap.2024-10378.eng","DOIUrl":null,"url":null,"abstract":"<p><p>Kabuki syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual disability, skeletal abnormalities, short stature, and dermatological disorders, among other clinical manifestations. There is an increased risk of associated autoimmune diseases (such as thrombocytopenic purpura, hemolytic anemia, vitiligo, and type 1 diabetes). Type 1 diabetes is caused by autoimmune destruction of the beta cells of the pancreas and is the most common form of diabetes in children and adolescents. We present three pediatric patients with a diagnosis of Kabuki syndrome and type 1 diabetes, two of whom have an associated second autoimmune disease.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410378"},"PeriodicalIF":0.5000,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Kabuki syndrome associated with type 1 diabetes mellitus: report of three cases.\",\"authors\":\"María E Andrés, Malena Silberkasten, Nuria Grimberg, Yesica Domínguez, Erika San Martin\",\"doi\":\"10.5546/aap.2024-10378.eng\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Kabuki syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual disability, skeletal abnormalities, short stature, and dermatological disorders, among other clinical manifestations. There is an increased risk of associated autoimmune diseases (such as thrombocytopenic purpura, hemolytic anemia, vitiligo, and type 1 diabetes). Type 1 diabetes is caused by autoimmune destruction of the beta cells of the pancreas and is the most common form of diabetes in children and adolescents. We present three pediatric patients with a diagnosis of Kabuki syndrome and type 1 diabetes, two of whom have an associated second autoimmune disease.</p>\",\"PeriodicalId\":8338,\"journal\":{\"name\":\"Archivos argentinos de pediatria\",\"volume\":\" \",\"pages\":\"e202410378\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2025-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archivos argentinos de pediatria\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5546/aap.2024-10378.eng\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archivos argentinos de pediatria","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5546/aap.2024-10378.eng","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
Kabuki syndrome associated with type 1 diabetes mellitus: report of three cases.
Kabuki syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual disability, skeletal abnormalities, short stature, and dermatological disorders, among other clinical manifestations. There is an increased risk of associated autoimmune diseases (such as thrombocytopenic purpura, hemolytic anemia, vitiligo, and type 1 diabetes). Type 1 diabetes is caused by autoimmune destruction of the beta cells of the pancreas and is the most common form of diabetes in children and adolescents. We present three pediatric patients with a diagnosis of Kabuki syndrome and type 1 diabetes, two of whom have an associated second autoimmune disease.
期刊介绍:
Archivos Argentinos de Pediatría is the official publication of the Sociedad Argentina de Pediatría (SAP) and has been published without interruption since 1930. Its publication is bimonthly.
Archivos Argentinos de Pediatría publishes articles related to perinatal, child and adolescent health and other relevant disciplines for the medical profession.