title: Assessment of Newly Proposed Clinical Criteria to Identify HNF1A MODY in Patients with an Initial Diagnosis of Type 1 or Type 2 Diabetes Mellitus.
abstract: The most common form of maturity-onset diabetes of the young (MODY) is caused by mutations in the hepatocyte nuclear factor 1A (HNF1A) gene. However, most HNF1A mutation-carriers are initially misdiagnosed with type 1 (T1DM) or type 2 (T2DM) diabetes mellitus; hence, they often receive nonoptimal treatment. The aim of our study was to test newly proposed clinical criteria for the identification of HNF1A MODY in patients with a diagnosis of T1DM or T2DM. To achieve this, the following criteria to preselect patients for screening were used: for T1DM: TDIR (total daily insulin requirement) > 0.3 IU of insulin/kg and the percentage of basal insulin > 30% of TDIR; for T2DM: sulphonylurea- (SU-) based oral treatment (monotherapy or combined with Metformin) > 15 years and BMI < 30 kg/m(2). We reviewed the clinical data of 140 patients with T1DM and 524 clinically diagnosed with T2DM. On the basis of these criteria, we found a HNF1A mutation in 1 out of 2 individuals with a diagnosis of T1DM and 1 out of 11 selected individuals with a diagnosis of T2DM. We believe that the simplicity of the proposed criteria might prove useful in clinical practice, as an alternative to more time-consuming classical diagnostic techniques.
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland.
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Grzanka
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland.
authors.forename: Bartlomiej
authors.initials: B
authors.lastname: Matejko
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Szopa
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Kiec-Wilk
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland.
authors.forename: Maciej T
authors.initials: MT
authors.lastname: Malecki
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Klupa