Long-Term Observation of a Man With Severe Obesity and Undiagnosed Monogenic Diabetes Serendipitously Treated With Metabolic Surgery
| Autor: | Su Chi Lim, Bhuvaneswari Pandian, Su Fen Ang, Clara Si Hua Tan, Anton Cheng, Chee Fang Sum, Mei Chung Moh, Wanxin Lai, Boon Khim Lim, Tavintharan Subramaniam, Chun Hai Tan |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty Sleeve gastrectomy Epidemiology medicine.medical_treatment Gastric Bypass Case Report 030209 endocrinology & metabolism Type 2 diabetes Hypoglycemia Gastroenterology Germinal Center Kinases whole exome sequencing 03 medical and health sciences 0302 clinical medicine Gastrectomy metabolic surgery Internal medicine Diabetes mellitus Exome Sequencing medicine lcsh:Pathology Humans Safety Risk Reliability and Quality Exome sequencing 030304 developmental biology Glycated Hemoglobin glucokinase 0303 health sciences lcsh:R5-920 Glucokinase business.industry Metabolic surgery nutritional and metabolic diseases medicine.disease Obesity Morbid Treatment Outcome Diabetes Mellitus Type 2 Hyperglycemia Concomitant monogenic diabetes type 2 diabetes business lcsh:Medicine (General) Safety Research lcsh:RB1-214 |
| Zdroj: | Journal of Investigative Medicine High Impact Case Reports, Vol 8 (2020) Journal of Investigative Medicine High Impact Case Reports |
| ISSN: | 2324-7096 |
| Popis: | A 43-year-old man, with severe obesity (43 kg/m2) and diabetes (presumed as type 2 diabetes [T2D]), underwent vertical sleeve gastrectomy in 2009 and Roux-en-Y gastric bypass in 2013. Recently, whole exome sequencing (conducted to search for monogenic obesity) serendipitously revealed that the individual harbored a heterozygous glucokinase ( GCK) variant p.(Arg422Leu) that was bioinformatically strongly predicted to be likely pathogenic. Therefore, he is likely to have concomitant maturity-onset diabetes of the young (MODY) type 2 ( GCK-MODY). A retrospective evaluation of the clinical data showed that the subject was diagnosed with T2D (given his severe obesity) in 2005 and was treated with oral antidiabetic monotherapy. His hyperglycemia was mostly mild (HbA1c [hemoglobin] < 8.1%), consistent with that of MODY2, despite severe obesity. After vertical sleeve gastrectomy, complete diabetes remission (HbA1c |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|