Juan Camilo Mateus, Carolina Rivera, Miguel O'Meara, Alex Valenzuela, Fernando Lizcano
{"title":"成熟期发病的青年糖尿病 5 型是一种多系统疾病：HNF1B 基因新型突变的病例报告和文献综述。","authors":"Juan Camilo Mateus, Carolina Rivera, Miguel O'Meara, Alex Valenzuela, Fernando Lizcano","doi":"10.1186/s40842-020-00103-6","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Diabetes mellitus with autosomal dominant inheritance, such as maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. MODY is a type of monogenic diabetes mellitus in which multiple genetic variants may cause an alteration to the functioning of beta cells. The three most known forms of MODY are caused by modifications to the <i>hnf4a</i>, <i>gck</i>, and <i>hnf1a</i> genes. However, other MODY variants can cause multiple alterations in the embryonic development of the endoderm. This is the case in patients presenting with MODY5, who have a mutation of the hepatic nuclear factor 1B (<i>hnf1b)</i> gene.</p><p><strong>Case presentation: </strong>We present the clinical case of a 15 year-old patient with a family history of diabetes mellitus and a classical MODY type 5 (MODY5) phenotype involving the pancreas and kidney, with a novel, unreported mutation in the <i>hnf1b</i> gene.</p><p><strong>Conclusions: </strong>MODY5 is characterised by a mutation in the <i>hnf1b</i> gene, which plays an important role in the development and function of multiple organs. It should be suspected in patients with unusual diabetes and multisystem involvement unrelated to diabetes.</p><p><strong>Graphical abstract: </strong></p>","PeriodicalId":56339,"journal":{"name":"Clinical Diabetes and Endocrinology","volume":"6 ","pages":"16"},"PeriodicalIF":0.0000,"publicationDate":"2020-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448977/pdf/","citationCount":"0","resultStr":"{\"title\":\"Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.\",\"authors\":\"Juan Camilo Mateus, Carolina Rivera, Miguel O'Meara, Alex Valenzuela, Fernando Lizcano\",\"doi\":\"10.1186/s40842-020-00103-6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Diabetes mellitus with autosomal dominant inheritance, such as maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. MODY is a type of monogenic diabetes mellitus in which multiple genetic variants may cause an alteration to the functioning of beta cells. The three most known forms of MODY are caused by modifications to the <i>hnf4a</i>, <i>gck</i>, and <i>hnf1a</i> genes. However, other MODY variants can cause multiple alterations in the embryonic development of the endoderm. This is the case in patients presenting with MODY5, who have a mutation of the hepatic nuclear factor 1B (<i>hnf1b)</i> gene.</p><p><strong>Case presentation: </strong>We present the clinical case of a 15 year-old patient with a family history of diabetes mellitus and a classical MODY type 5 (MODY5) phenotype involving the pancreas and kidney, with a novel, unreported mutation in the <i>hnf1b</i> gene.</p><p><strong>Conclusions: </strong>MODY5 is characterised by a mutation in the <i>hnf1b</i> gene, which plays an important role in the development and function of multiple organs. It should be suspected in patients with unusual diabetes and multisystem involvement unrelated to diabetes.</p><p><strong>Graphical abstract: </strong></p>\",\"PeriodicalId\":56339,\"journal\":{\"name\":\"Clinical Diabetes and Endocrinology\",\"volume\":\"6 \",\"pages\":\"16\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-08-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448977/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Diabetes and Endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s40842-020-00103-6\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2020/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Diabetes and Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s40842-020-00103-6","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.
Background: Diabetes mellitus with autosomal dominant inheritance, such as maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. MODY is a type of monogenic diabetes mellitus in which multiple genetic variants may cause an alteration to the functioning of beta cells. The three most known forms of MODY are caused by modifications to the hnf4a, gck, and hnf1a genes. However, other MODY variants can cause multiple alterations in the embryonic development of the endoderm. This is the case in patients presenting with MODY5, who have a mutation of the hepatic nuclear factor 1B (hnf1b) gene.
Case presentation: We present the clinical case of a 15 year-old patient with a family history of diabetes mellitus and a classical MODY type 5 (MODY5) phenotype involving the pancreas and kidney, with a novel, unreported mutation in the hnf1b gene.
Conclusions: MODY5 is characterised by a mutation in the hnf1b gene, which plays an important role in the development and function of multiple organs. It should be suspected in patients with unusual diabetes and multisystem involvement unrelated to diabetes.
期刊介绍：
Clinical Diabetes and Endocrinology is an open access journal publishing within the field of diabetes and endocrine disease. The journal aims to provide a widely available resource for people working within the field of diabetes and endocrinology, in order to improve the care of people affected by these conditions. The audience includes, but is not limited to, physicians, researchers, nurses, nutritionists, pharmacists, podiatrists, psychologists, epidemiologists, exercise physiologists and health care researchers. Research articles include patient-based research (clinical trials, clinical studies, and others), translational research (translation of basic science to clinical practice, translation of clinical practice to policy and others), as well as epidemiology and health care research. Clinical articles include case reports, case seminars, consensus statements, clinical practice guidelines and evidence-based medicine. Only articles considered to contribute new knowledge to the field will be considered for publication.
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