Rare types of diabetes mellitus

Rev Med Chir Soc Med Nat Iasi. 2012 Jul-Sep;116(3):700-7.

Abstract

Diabetes mellitus is a heterogenous disorder characterized by chronic hyperglycemia and induced by a large number of etiopathogenic conditions. Beside type 1 and type 2 diabetes, which account for almost 90% of all cases, practitioners may encounter patients with more infrequent forms of diabetes, as those induced by mutations of a single gene, atypical immune disorders or neonatal diabetes. Monogenic diabetes is represented by genetic disorders in the structure of the beta-cell (the MODY syndromes and the mutations of mitochondrial DNA) or in the insulin's action (type A insulin resistance syndrome, Rabson-Mendenhall syndrome, leprechaunism, lipodystrophies). The rare forms of immune diabetes are determined by antibodies against insulin or insulin receptor or appear as a component of the "stiff man syndrome". Neonatal diabetes is induced by mutations in genes that control beta-cell development and function and may have a transient or permanent nature. Knowledge of the uncommon forms of diabetes mellitus enables physicians to apply the optimal treatment, to estimate the evolution of the patient and to apply a complete family screening in order to diagnose all other blood relatives as soon as possible.

MeSH terms

  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / etiology
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / immunology
  • Diabetes Mellitus, Type 1 / genetics
  • Diabetes Mellitus, Type 2 / genetics
  • Diagnosis, Differential
  • Donohue Syndrome / genetics
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Insulin / genetics
  • Metabolic Syndrome / genetics
  • Mutation
  • Rare Diseases
  • Receptor, Insulin / genetics
  • Severity of Illness Index

Substances

  • Insulin
  • Receptor, Insulin