Long-Term Observation of a Man With Severe Obesity and Undiagnosed Monogenic Diabetes Serendipitously Treated With Metabolic Surgery.

Journal of Investigative Medicine High Impact Case Reports
Bhuvaneswari PandianSu Chi Lim

Abstract

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 <6.0% and fasting plasma glucose <5.6 mmol/L without use of antidiabetic medication) was achieved. The percentage of maximum body weight loss attained after surgery was 23.6%. Euglycemia was maintained during the subsequent decade, up to the last follow-up in 2019, without any sign of hypoglycemia. In conclusion, we report a de...Continue Reading

References

Apr 11, 2012·Nature Reviews. Endocrinology·Stephen J Cleland
Jun 19, 2013·The Journal of Clinical Endocrinology and Metabolism·Catherine PihokerUNKNOWN SEARCH for Diabetes in Youth Study Group
May 26, 2016·Diabetes Care·William T CefaluDavid E Cummings
Nov 18, 2016·The Medical Journal of Australia·Ramy H Bishay, Jerry R Greenfield
Jun 6, 2018·Frontiers in Endocrinology·Parveena FirdousShariq Rashid Masoodi
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Sep 8, 2020·Diabetologia·Jovana VasiljevićMichele Solimena

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Methods Mentioned

BETA
gastric bypass
exome
amino

Software Mentioned

SIFT
Mutation Taster
PolyPhen

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