Aims The aim of this article was to share with a wide readership some data and related reasoning about a multigenerational form of diabetes mellitus of adulthood. Data synthesis We have recently described a familial form of diabetes mellitus, which in the routine clinical setting of adult individuals is simplistically diagnosed as type 2 diabetes. Such misdiagnosis involves as much as 3% of adult unrelated diabetic patients with no evidence of autoimmune disease. More recent data, obtained by means of a next-generation sequencing, indicate that approximately 25% of such patients carry mutations in the genes involved in monogenic diabetes, thus leaving unraveled the molecular causes of the remaining 75% individuals. Conclusions Our proposal is to define the latter patients as being affected by familial diabetes of adulthood (FDA), a clear admission of ignorance and a limbo where adult patients with multigenerational diabetes with no genetic definition of their hyperglycemia have to wait for better times.

Familial diabetes of adulthood: A bin of ignorance that needs to be addressed / Prudente, S.; Ludovico, O.; Trischitta, V.. - In: NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES. - ISSN 0939-4753. - 27:12(2017), pp. 1053-1059. [10.1016/j.numecd.2017.10.017]

Familial diabetes of adulthood: A bin of ignorance that needs to be addressed

Prudente, S.;Trischitta, V.
2017

Abstract

Aims The aim of this article was to share with a wide readership some data and related reasoning about a multigenerational form of diabetes mellitus of adulthood. Data synthesis We have recently described a familial form of diabetes mellitus, which in the routine clinical setting of adult individuals is simplistically diagnosed as type 2 diabetes. Such misdiagnosis involves as much as 3% of adult unrelated diabetic patients with no evidence of autoimmune disease. More recent data, obtained by means of a next-generation sequencing, indicate that approximately 25% of such patients carry mutations in the genes involved in monogenic diabetes, thus leaving unraveled the molecular causes of the remaining 75% individuals. Conclusions Our proposal is to define the latter patients as being affected by familial diabetes of adulthood (FDA), a clear admission of ignorance and a limbo where adult patients with multigenerational diabetes with no genetic definition of their hyperglycemia have to wait for better times.
2017
Monogenic diabetes; Multigenerational diabetes; Biomarkers; Blood Glucose; DNA Mutational Analysis; Diabetes Mellitus, Type 2; Diagnostic Errors; Genetic Markers; Genetic Predisposition to Disease; Heredity; Humans; Molecular Diagnostic Techniques; Pedigree; Phenotype; Predictive Value of Tests; Risk Factors; Mutation; Medicine (miscellaneous); Endocrinology, Diabetes and Metabolism; Nutrition and Dietetics; Cardiology and Cardiovascular Medicine
01 Pubblicazione su rivista::01g Articolo di rassegna (Review)
Familial diabetes of adulthood: A bin of ignorance that needs to be addressed / Prudente, S.; Ludovico, O.; Trischitta, V.. - In: NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES. - ISSN 0939-4753. - 27:12(2017), pp. 1053-1059. [10.1016/j.numecd.2017.10.017]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1187864
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