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Diabetes Mellitus, Obesity, Lipoprotein Disorders and other Metabolic Diseases
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
A number of gene mutations with a high penetrance and large effect on glucose metabolism can be thought of as monogenic forms of diabetes. The best described group is MODY (‘maturity onset diabetes of the young’). These patients have a phenotype like type 2 diabetes (mild hyperglycaemia without ketosis) but are not obese and the onset of their diabetes is usually before the age of 25 years with autosomal dominant inheritance (Table 11.2).
Endocrinology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Mehul Dattani, Catherine Peters
In addition to the diagnostic glucose and HbA1c concentrations, a urine dipstick test for ketonuria should also be undertaken. Absence of ketonuria might indicate type 2 diabetes or maturity onset diabetes of the young (MODY). Markers of the process of immune-mediated destruction are present in 85–98% of children with newly diagnosed type 1 diabetes. These include autoantibodies to insulin (IAA), autoantibodies to glutamic acid decarboxylase (GAD65) and autoantibodies to the tyrosine phosphatases IA-2 and IA-2β.
ANTIDIABETIC ACTIVITY OF Hypericum mysorense Heyne
Published in V. R. Mohan, A. Doss, P. S. Tresina, Ethnomedicinal Plants with Therapeutic Properties, 2019
V. Sornalakshmi, P. S. Tresina, K. Paulpriya, V. R. Mohan
Juvenile DM: Among several monogenic forms of DM which have been identified, maturity onset diabetes of the young (MODY) is a familial form of NIDDM with autosomal dominant inheritance, which usually develops in childhood, adolescence, or young adulthood, and presents primarily insulin secretion defects (Raffel et al., 1997). MODY is not a single entity, but involves genetic, metabolic, and clinical heterogeneity. Mutations in six genes cause most cases of MODY (MODY 1–MODY 6) (Horikawa et al., 1997; Malecki et al., 1999). The prevalence of MODY is unknown but about 2–5% of patients with type 2 diabetes may in fact have MODY (Lederman, 1995). The term juvenile onset diabetes has sometimes been used for IDDM and maturity onset for NIDDM (Bastaki, 2005).
The role of sulfonylureas in the treatment of type 2 diabetes
Published in Expert Opinion on Pharmacotherapy, 2022
Brian Tomlinson, Nivritti Gajanan Patil, Manson Fok, Paul Chan, Christopher Wai Kei Lam
Maturity-onset diabetes of the young (MODY) due to dominant mutations in one of at least 13 different genes occurs in <5% of people with diabetes and usually manifests before the age of 25 years [116,117]. MODY3 caused by mutations in the gene for hepatocyte nuclear factor 1 α (HNF1A) is the most common form of MODY, accounting for more than half the cases of MODY. Patients with this condition and with MODY1 caused by mutations in HNF1A and MODY12 caused by mutations in ABCC8 are extremely sensitive to sulfonylureas, which are considered first-line therapy in these patients [117–119]. Patients with HNF1A MODY had a 5.2-fold greater reduction in fasting plasma glucose with gliclazide than with metformin and 3.9-fold greater response to gliclazide than those patients with T2D [120].
Emerging technologies in pediatrics: the paradigm of neonatal diabetes mellitus
Published in Critical Reviews in Clinical Laboratory Sciences, 2020
Nicolas C. Nicolaides, Christina Kanaka-Gantenbein, Nektaria Papadopoulou-Marketou, Amalia Sertedaki, George P. Chrousos, Ioannis Papassotiriou
Diabetes mellitus is an etiologically heterogeneous group of metabolic disorders characterized by multiple complex interactions between environmental and genetic factors [1]. The most common forms are type 1 and type 2 diabetes mellitus, both representing an ever-increasing health burden globally, since their prevalence continues to increase [2,3]. Although these types have distinct multifactorial pathogeneses, accumulating evidence suggests that several genes in association with nongenetic factors (e.g. viruses) contribute substantially to the development of insulinopenia and/or insulin resistance. However, 1–2% of cases of diabetes mellitus result from genetic defects in a single gene (monogenic diabetes mellitus), including the maturity-onset diabetes of the young (MODY) and neonatal diabetes mellitus (NDM) diagnosed before 6 months of age [4].
Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series
Published in Journal of Obstetrics and Gynaecology, 2019
Xiang-Yi Jing, Lv-Yin Huang, Li Zhen, Jin Han, Dong-Zhi Li
The 17q12 deletion syndrome is a chromosomal anomaly resulting from the interstitial microdeletion of the long arm of chromosome 17. Although its prevalence is unknown, this condition appears to be one of the common recurrent microdeletion/duplication syndromes in the cytogenetic investigation of patients with neuropsychiatric disorders (Moreno-De-Luca et al. 2010). The phenotypes vary widely, even among the affected members of the same family, with renal abnormalities being the most commonly described. A form of diabetes, maturity-onset diabetes of the young type 5 (MODY5), can develop in some patients (Bellanné-Chantelot et al. 2005). The combination of renal anomalies and MODY5 is referred to as renal cysts and diabetes (RCAD) syndrome (Verhave et al. 2016). Notably, recent reports have suggested that there is also a link between the 17q12 deletion and intellectual disability/autism (Nagamani et al. 2010). Less common clinical findings include abnormalities of the eyes, liver, genitalia and bones. With the wide use of chromosomal microarray (CMA) in prenatal diagnosis, 17q12 deletion has also been reported in a limited number of prenatal cases (Hendrix et al. 2012; Chen et al. 2013; Jones et al. 2015; Goumy et al. 2015; Gilboa et al. 2016). The aim of the present study is to delineate the prenatal sonographic signs in foetuses diagnosed as 17q12 deletion using CMA.