TY - JOUR
T1 - Glucokinase-maturity onset diabetes mellitus in the young suggested by factory-calibrated glucose monitoring data
T2 - a case report
AU - Nomura, Nao
AU - Iizuka, Katsumi
AU - Goshima, Eiichi
AU - Hosomichi, Kazuyoshi
AU - Tajima, Atsushi
AU - Kubota, Sodai
AU - Liu, Yanyan
AU - Takao, Ken
AU - Kato, Takehiro
AU - Mizuno, Masami
AU - Hirota, Takuo
AU - Suwa, Tetsuya
AU - Horikawa, Yukio
AU - Yabe, Daisuke
N1 - Funding Information:
This work was supported by grants from the Japan Society for the Promotion of Sciences [20K11645 (K.I.), 20K19673 (Y.L.), 21K19504 (D.Y.)], the Japan Agency for medical research and development [JP20ek0210123s0602 (D.Y.)], Yakult Bio-Science Foundation (K.I.), and a Research Grant from Japan Diabetes Foundation and Costco Wholesale Japan Ltd (Y.H.).
Publisher Copyright:
© The Japan Endocrine Society.
PY - 2022
Y1 - 2022
N2 - Glucokinase has an important role in regulating glycolysis as a glucose sensor in liver and pancreatic β cells. Glucokinase-maturity onset diabetes in young (GCK-MODY also known as MODY2) is caused by autosomal dominant gene mutation of the GCK gene; it is characterized by mild fasting hyperglycemia and small 2-h glucose increment during 75 g-oral glucose tolerance test (OGTT) as well as near-normal postprandial glucose variabilities. A 10-year-old girl with family history of diabetes visited her physician after being found positive for urinary glucose by school medical checkup. She received a diagnosis of diabetes based on the laboratory data: 75 g-OGTT (mild fasting hyperglycemia and small 2-h glucose increment) and factory-calibrated glucose monitoring (mild elevation of average glucose level and near-normal glycemic variability), which raised suspicion of GCK-MODY. She was then referred to our institution for genetic examination, which revealed a GCK heterozygous mutation (NM_000162: exon10: c.1324G>T: p.E442X) in the proband as well as in her mother and maternal grandmother, who had been receiving anti-diabetes medications without knowing that they had GCK-MODY specifically. GCK-MODY cases show incidence of microvascular and macrovascular diseases similar to that of normal subjects, and their glucose levels are adequately controlled without anti-diabetes drug use. Thus, early and definitive diagnosis of MODY2 by genetic testing is important to avoid unnecessary medication.
AB - Glucokinase has an important role in regulating glycolysis as a glucose sensor in liver and pancreatic β cells. Glucokinase-maturity onset diabetes in young (GCK-MODY also known as MODY2) is caused by autosomal dominant gene mutation of the GCK gene; it is characterized by mild fasting hyperglycemia and small 2-h glucose increment during 75 g-oral glucose tolerance test (OGTT) as well as near-normal postprandial glucose variabilities. A 10-year-old girl with family history of diabetes visited her physician after being found positive for urinary glucose by school medical checkup. She received a diagnosis of diabetes based on the laboratory data: 75 g-OGTT (mild fasting hyperglycemia and small 2-h glucose increment) and factory-calibrated glucose monitoring (mild elevation of average glucose level and near-normal glycemic variability), which raised suspicion of GCK-MODY. She was then referred to our institution for genetic examination, which revealed a GCK heterozygous mutation (NM_000162: exon10: c.1324G>T: p.E442X) in the proband as well as in her mother and maternal grandmother, who had been receiving anti-diabetes medications without knowing that they had GCK-MODY specifically. GCK-MODY cases show incidence of microvascular and macrovascular diseases similar to that of normal subjects, and their glucose levels are adequately controlled without anti-diabetes drug use. Thus, early and definitive diagnosis of MODY2 by genetic testing is important to avoid unnecessary medication.
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U2 - 10.1507/endocrj.ej21-0526
DO - 10.1507/endocrj.ej21-0526
M3 - Comment/debate
C2 - 34803122
AN - SCOPUS:85129710672
VL - 69
SP - 473
EP - 477
JO - Endocrine Journal
JF - Endocrine Journal
SN - 0918-8959
IS - 4
ER -