Vnitr Lek 2018, 64(4):367-374 | DOI: 10.36290/vnl.2018.054

Diagnosis of MODY - brief overview for clinical practice

Jana Urbanová^1,*, Ludmila Brunerová¹, Jan Brož²

¹ Diabetologické centrum II. interní kliniky 3. LF UK a FN Královské Vinohrady, Praha

² Interní klinika 2. LF UK a FN Motol, Praha

Maturity Onset Diabetes of the Young (MODY) comprises inherited forms of diabetes mellitus caused by the mutations in the genes involved in the development, differentiation and function of beta-cells. The majority of patients with MODY remains misdiagnosed and erroneously classified as type 1 or type 2 diabetic patients. Correct MODY diagnosis is, however, essential since it enables individualization of treatment, assessment of the prognosis and identification of diabetes among patient's relatives. Clinical presentation of MODY is highly variable and it could resemble other types of diabetes, thus identification of MODY patients might be difficult. In this review, we describe typical clinical presentation of the most common MODY subtypes, we summarize current diagnostic guidelines in confirmation of MODY and we raise the question of possible need for extension of current clinical criteria indicating a patient for molecular-genetic testing.

Keywords: clinical course; diagnosis; differential diagnosis; glucokinase; hepatocyte nuclear factors; MODY

Received: November 27, 2017; Accepted: January 14, 2018; Published: April 1, 2018  Show citation