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

S Prudente1, O Ludovico2, V Trischitta3

  • 1Research Unit of Metabolic and Cardiovascular Diseases, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

Nutrition, Metabolism, and Cardiovascular Diseases : NMCD
|November 28, 2017
PubMed
Abstract

Insights

Familial diabetes of adulthood (FDA) is a multigenerational form of diabetes often misdiagnosed as type 2 diabetes. Genetic analysis reveals monogenic diabetes mutations in 25% of cases, leaving 75% unexplained.

Area of Science:

  • Endocrinology
  • Genetics
  • Diabetes Research

Background:

  • A multigenerational form of diabetes mellitus in adults is often misdiagnosed as type 2 diabetes.
  • This misdiagnosis affects approximately 3% of adult diabetic patients without autoimmune disease evidence.

Purpose of the Study:

  • To present data and reasoning on a multigenerational form of adult diabetes mellitus.
  • To propose a definition for patients with unexplained multigenerational diabetes.

Main Methods:

  • Next-generation sequencing was employed to analyze genetic mutations.
  • Clinical data from adult diabetic patients were reviewed.

Main Results:

  • Next-generation sequencing identified mutations in monogenic diabetes genes in approximately 25% of patients.
  • The molecular causes for the remaining 75% of patients with familial diabetes remain unidentified.

Conclusions:

  • A new term, familial diabetes of adulthood (FDA), is proposed for patients with multigenerational diabetes lacking a genetic definition.
  • This classification acknowledges current knowledge gaps and the need for further research into the genetic basis of hyperglycemia in these individuals.
Keywords:
Monogenic diabetesMultigenerational diabetes

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