Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene
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(2020) 6:16
CASE REPORT
Open Access
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 Juan Camilo Mateus1*, Carolina Rivera2, Miguel O’Meara3, Alex Valenzuela3 and Fernando Lizcano3,4*
Abstract 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. Keywords: MODY5, HNF1B, Renal hypoplasia, Pancreatic atrophy
Background Diabetes mellitus (DM) with autosomal dominant inheritance, i.e., maturity-onset diabetes of the young (MODY), is a heterogeneous group of diseases caused by gene mutations that result in pancreatic beta-cell dysfunction [1]. Confirmation of a diagnosis of MODY allows for successful patient management, ensuring a healthy pregnancy and the provision of genetic counselling to families [2]. Examination of the relatives of MODY patients makes it * Correspondence: [email protected]; [email protected] 1 Endocrinology Fellowship, School of Medicine and Health Sciences, Rosary University – Fundacion Cardio-Infantil IC, Bogotá, Colombia 3 Department of Endocrinology, Diabetes and Nutrition, Fundacion Cardio-Infantil IC, Bogotá, Colombia Full list of author information is available at the end of the article
possible to diagnose hyperglycaemia in the preclinical phase and allows close monitoring for possible complications derived from this entity. Typically, the onset of diabetes is during early life, with a mean age of presentation of around 25 years of age [3]. At least 14 different genes have been reported to be involved in the aetiology of MODY [4]. Mutations of the hnf1a, gck and hnf4a genes are the most frequently involved, accounting for 15–25%, 30–50 and 5%, respectively [1]. Mutations in the hepatic nuclear factor 1B (hnf1b) gene have been described in patients with MODY type 5 (MODY5), which comprises less than 5% of MODY subtypes [1]. HNF1B is a transcription factor involved in the development of embryonic structures,
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