title: Prevalence of Retinopathy in Adult Patients with GCK-MODY and HNF1A-MODY.
abstract: We aimed to assess the prevalence of diabetic retinopathy (DR) in adult patients with GCK-MODY and HNF1A-MODY in Poland and to identify biochemical and clinical risk factors associated with its occurrence.We examined 74 GCK mutation carriers, 51 with diabetes and 23 with prediabetes, respectively, and 63 patients with HNF1A-MODY. Retinal photographs, 12 for each patient, were done by a fundus camera. Signs of DR were graded according to the DR disease severity scale. Statistical tests were performed to assess differences between the groups and logistic regression was done for the association with DR.The mean age at examination was 34.5±14.8 and 39.9±15.2 in the GCK-MODY and HNF1A-MODY groups, respectively. Mild nonproliferative DR (NPDR) was found in one patient with the GCK mutation and likely concomitant type 1 diabetes, whereas DR was diagnosed in 15 HNF1A-MODY patients: 9 with proliferative, 3 with moderate NPDR and 2 with mild NPDR. In univariate logistic regression analysis in the HNF1A-MODY group, significant results were found for diabetes duration, fasting glycemia, HbA1c, arterial hypertension, age at the examination, and eGFR. The strongest independent predictors of DR in HNF1A-MODY were markers of glucose control: HbA1c (OR: 2.05, CL%95: 1.2-3.83, p=0.01) and glucose (p=0.006, OR: 1.40, CL%95: 1.12-1.83) analyzed in 2 separated models. Additionally, arterial hypertension independently predicted DR (OR: 9.06, CL%95: 1.19-98.99, p=0.04) in the model with HbA1c as glycaemic control marker.In conclusion, DR of any degree was not present in our GCK-MODY group, while in spite of young age almost every fourth subject with HNF1A-MODY showed signs of this complication.
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Szopa
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Wolkow
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: B
authors.initials: B
authors.lastname: Matejko
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Skupien
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: T
authors.initials: T
authors.lastname: Klupa
authors.affiliation: Department of Clinical Biochemistry, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: I
authors.initials: I
authors.lastname: Wybrańska
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: I
authors.initials: I
authors.lastname: Trznadel-Morawska
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: B
authors.initials: B
authors.lastname: Kiec-Wilk
authors.affiliation: Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Borowiec
authors.affiliation: Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: M T
authors.initials: MT
authors.lastname: Malecki
mesh_terms: D000328:Adult; D003930:Diabetic Retinopathy / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D005260:Female; D000081410:Germinal Center Kinases; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D011044:Poland / Q000453:epidemiology; D015995:Prevalence; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism
chemical_list: D000081410:Germinal Center Kinases; C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D017346:Protein Serine-Threonine Kinases