MODY diabetes - monogenic hereditary diabetes in young people: a mini review
DOI:
https://doi.org/10.13112/pc.1165Keywords:
Diabetes Mellitus, Type 2; Insulin Secretion; Genetic Testing; Precision MedicineAbstract
The aim of this short review is to present the most common clinical variants of monogenic hereditary diabetes of the young - maturity onset diabetes of the young (MODY).
MODY is a monogenic type of diabetes characterized by an autosomal dominant mode of inheritance, early clinical onset of the disease (usually before the age of 25), and preserved endogenous insulin secretion without signs of autoimmune damage to the pancreas.
The most common types of MODY diabetes in Europe and the US are: glucokinase-MODY (GCK-MODY), hepatocyte nuclear factor 1 alpha MODY (HNF1A-MODY), and hepatocyte nuclear factor 4 MODY (HNF4A-MODY).
Specific features may indicate specific subtypes of MODY, such as renal cysts (HNF1B-MODY), macrosomia and/or neonatal hypoglycemia (HNF4A-MODY), pancreatic exocrine dysfunction or pancreatic cysts (CEL-MODY), or hearing impairment and maternal inheritance of diabetes (mitochondrial diabetes). MODY diabetes subtypes are an excellent clinical example of personalized medicine in diabetes, in which genetic diagnosis of the disease predicts the clinical course of the disease and response to specific therapy. There are no uniform clinical criteria for diagnosing MODY diabetes, and experience and good clinical suspicion are required, which should be confirmed by genetic testing.
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