Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú

Lizarzaburu-Robles, Juan Carlos; Torre, Juan C. Gómez de la; Castro-Mujica, María del Carmen; Vento, Flor; Villanes, Sofia; Salsavilca, Elizabeth; Guerin, Chris

doi:10.1186/s40842-019-0091-x

Cited by 6 publications

(3 citation statements)

References 20 publications

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“…Age of onset is particularly useful for distinguishing MODY from other types of diabetes. However, MODY subtypes with variable age of onset, low penetrance, or atypical presentation may not fulfill classical diagnostic criteria [ 15 – 18 ]. Furthermore, in a study involving 922 families referred for MODY testing, spontaneous de novo mutations affecting GCK, HNF1A, or HNF4A genes were reported in 11 of the 150 individuals who did not have autosomal dominant inheritance of diabetes mellitus or a multigenerational family history of hyperglycemia [ 19 ].…”

Section: Introductionmentioning

confidence: 99%

The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)

Nkonge

2020

Clin Diabetes Endocrinol

115

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Background The most common type of monogenic diabetes is maturity-onset diabetes of the young (MODY), a clinically and genetically heterogeneous group of endocrine disorders that affect 1–5% of all patients with diabetes mellitus. MODY is characterized by autosomal dominant inheritance but de novo mutations have been reported. Clinical features of MODY include young-onset hyperglycemia, evidence of residual pancreatic function, and lack of beta cell autoimmunity or insulin resistance. Glucose-lowering medications are the main treatment options for MODY. The growing recognition of the clinical and public health significance of MODY by clinicians, researchers, and governments may lead to improved screening and diagnostic practices. Consequently, this review article aims to discuss the epidemiology, pathogenesis, diagnosis, and treatment of MODY based on relevant literature published from 1975 to 2020. Main body The estimated prevalence of MODY from European cohorts is 1 per 10,000 in adults and 1 per 23,000 in children. Since little is known about the prevalence of MODY in African, Asian, South American, and Middle Eastern populations, further research in non-European cohorts is needed to help elucidate MODY’s exact prevalence. Currently, 14 distinct subtypes of MODY can be diagnosed through clinical assessment and genetic analysis. Various genetic mutations and disease mechanisms contribute to the pathogenesis of MODY. Management of MODY is subtype-specific and includes diet, oral antidiabetic drugs, or insulin. Conclusions Incidence and prevalence estimates for MODY are derived from epidemiologic studies of young people with diabetes who live in Europe, Australia, and North America. Mechanisms involved in the pathogenesis of MODY include defective transcriptional regulation, abnormal metabolic enzymes, protein misfolding, dysfunctional ion channels, or impaired signal transduction. Clinicians should understand the epidemiology and pathogenesis of MODY because such knowledge is crucial for accurate diagnosis, individualized patient management, and screening of family members.

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Section: Introductionmentioning

confidence: 99%

The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)

Nkonge

2020

Clin Diabetes Endocrinol

115

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“…MODY can be distinguished from other types of diabetes based on the age at which the disease first manifested. MODY subtypes with variable age of onset, low penetrance, or atypical presentation may fail to meet the diagnostic criteria for the disease [14][15][16][17]. Additionally, while a family history of diabetes is highly suggestive of MODY, some mutations in MODY-associated genes can occur at high frequencies in individuals without a family history of diabetes, demonstrating the critical nature of genetic testing in individuals without a family history of diabetes [18].…”

Section: Diagnosis Of Modymentioning

confidence: 99%

Diagnosis and Treatment of MODY: An Updated Mini Review

2021

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Maturity-Onset Diabetes of the Young (MODY) is the most common form of monogenic diabetes resulting from a single gene mutation. It is characterized by mild hyperglycemia, autosomal dominant inheritance, early onset of diabetes (<25 years), insulin resistance, and preservation of endogenous insulin secretion. Currently, 14 MODY subtypes have been identified, with differences in incidence, clinical features, diabetes severity and related complications, and treatment response. This type of diabetes is mostly misdiagnosed as either type 1 or type 2 diabetes mellitus because it is difficult to differentiate between these forms of diabetes due to clinical similarities, the high cost of genetic testing, and lack of awareness. As a result, thousands of patients are not receiving appropriate treatment. Accurate diagnosis would allow for more effective therapeutic management and treatment strategies that are distinct from those used for type 1 and type 2 diabetes. This review serves to explore MODY subtypes, diagnosis, and treatment, and increase awareness of MODY incidence.

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“…The classical diagnosis of early-onset diabetes may be failing due to issues such as low penetrance observed in some MODY cases, several sub-classifications of the disease, and unusual clinical presentations of the disease [13][14][15]. Attempts to address these challenges have led to a global expansion of diagnostics and this was necessitated by an increasing public health concern [16].…”

Section: Introductionmentioning

confidence: 99%

Early-onset diabetes in Africa: A mini-review of the current genetic profile

Adadey,

Mensah,

Acquah

et al. 2023

Preprint

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Early-onset diabetes is poorly diagnosed partly due to its heterogeneity and variable presentations. Although several genes have been associated with the disease, these genes are not well studied in Africa. We sought to identify the major neonatal, early childhood, juvenile, or early-onset diabetes genes in Africa; and evaluate the available molecular methods used for investigating these gene variants. A literature search was conducted on PubMed, Scopus, Africa-Wide Information, and Web of Science databases. The retrieved records were screened and analyzed to identify genetic variants associated with early-onset diabetes. Although 319 records were retrieved, 32 were considered for the current review. Most of these records (22/32) were from North Africa. The disease condition was genetically heterogenous with most cases possessing unique gene variants. We identified 22 genes associated with early-onset diabetes, 9 of which had variants (n=19) classified as pathogenic or likely pathogenic (PLP). Among the PLP variants,IER3IP1: p.(Leu78Pro) was the variant with the highest number of cases. There was limited data from West Africa, hence the contribution of genetic variability to early-onset diabetes in Africa could not be comprehensively evaluated. It is worth mentioning that most studies were focused on natural products as antidiabetics and only a few studies reported on the genetics of the disease.ABCC8andKCNJ11were implicated as major contributors to early-onset diabetes gene networks. Gene ontology analysis of the network associated ion channels, impaired glucose tolerance, and decreased insulin secretions to the disease. Our review highlights 9 genes from which PLP variants have been identified and can be considered for the development of an African diagnostic panel. There is a gap in early-onset diabetes genetic research from sub-Saharan Africa which is much needed to develop a comprehensive, efficient, and cost-effective genetic panel that will be useful in clinical practice on the continent and among the African diasporas.

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Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú

Cited by 6 publications

References 20 publications

The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)

The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)

Diagnosis and Treatment of MODY: An Updated Mini Review

Early-onset diabetes in Africa: A mini-review of the current genetic profile

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