GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds.
نویسندگان
چکیده
AIM To determine if the previously published clinical criteria for identifying glucokinase monogenic diabetes [GCK gene mutation in maturity-onset diabetes of the young (GCK-MODY)], an elevated antenatal fasting blood glucose of 5.5-8.0 mmol/l, an increment of < 4.6 mmol/l at 2 h in an oral glucose tolerance test and slim are applicable in a large multi-ethnic cohort of women with gestational diabetes. METHODS We analysed de-identified data from all women with gestational diabetes, diagnosed using the Australasian Diabetes in Pregnancy Society (1998) Australian criteria at our institution between 1993 and 2013, making comparisons among those with complete antenatal data including: diagnostic oral glucose tolerance test results meeting the above criteria; pregestational BMI; birth outcomes; and postpartum oral glucose tolerance test data. We categorized these women into two groups: Group A1 had a BMI ≤ 21 kg/m(2) and Group A2 had a BMI > 21 kg/m(2) and < 25 kg/m(2). RESULTS Of the 302 women meeting the study entry criteria, we had complete data including a postpartum oral glucose tolerance test result for 171 women: 54 in Group A1 and 117 in Group A2. Ethnicity was significantly different between the groups. The oral glucose tolerance test and postpartum HbA1c results identified few women ( < 14%) in Group A1 and Group A2 who still had 'possible GCK-MODY'. CONCLUSIONS Our findings indicate that previously recommended clinical criteria for the identification of women likely to have GCK-MODY lack specificity in a cohort of women with multi-ethnic backgrounds. Using these criteria to select women for testing for GCK-MODY in pregnancy would therefore be costly and is likely to yield few women positive for this condition.
منابع مشابه
The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort.
OBJECTIVE Identifying glucokinase monogenic diabetes (GCK-MODY) in pregnancy is important, as management is different from management for other forms of gestational diabetes mellitus (GDM) and there is no increased maternal risk of type 2 diabetes. We calculated the population prevalence of GCK-MODY in pregnancy and determined the clinical characteristics that differentiate pregnant women with ...
متن کاملIdentifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c.
OBJECTIVE Glucokinase monogenic diabetes (GCK-maturity-onset diabetes of the young [MODY]) should be differentiated from gestational diabetes mellitus (GDM) because management differs. New pregnancy-specific screening criteria (NSC) have been proposed to identify women who warrant GCK genetic testing. We tested NSC and HbA1c in a multiethnic GDM cohort and examined projected referrals for GCK t...
متن کاملSpectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals
BACKGROUND Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1-2% of all cases of diabetes. However, phenotypic heterogeneity and lack of family history of diabetes can limit the diagnosis of monogenic forms of di...
متن کاملMolecular genetics goes to the diabetes clinic.
Diabetes has historically been thought of as a medical specialty which primarily deals with treatment rather than diagnosis. Molecular genetic testing can now be used to make a diagnosis of the 1-2% of all diabetic patients with monogenic diabetes. Making a diagnosis of monogenic diabetes is important as it can have a dramatic effect on the treatment a patient should receive: glucokinase MODY p...
متن کاملOpposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
Glucokinase is essential for glucose-stimulated insulin release from the pancreatic beta-cell, serving as glucose sensor in humans. Inactivating or activating mutations of glucokinase lead to different forms of glucokinase disease, i.e. GCK-monogenic diabetes of youth, permanent neonatal diabetes (inactivating mutations), and congenital hyperinsulinism, respectively. Here we present a novel glu...
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ورودعنوان ژورنال:
- Diabetic medicine : a journal of the British Diabetic Association
دوره 32 12 شماره
صفحات -
تاریخ انتشار 2015