Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center
Autor: | Han-Wook Yoo, Gu-Hwan Kim, Yunha Choi, Jin-Ho Choi, Ja Hye Kim, Yena Lee |
---|---|
Jazyk: | angličtina |
Rok vydání: | 2021 |
Předmět: |
Pediatrics
medicine.medical_specialty Mitochondrial Diseases Adolescent Wolfram syndrome MODY 5 Genetic counseling Type 1 diabetes mellitus 030209 endocrinology & metabolism Deafness Maturity onset diabetes of the young Maturity-onset diabetes of the young 03 medical and health sciences 0302 clinical medicine Monogenic diabetes Diabetes mellitus Republic of Korea Type 2 diabetes mellitus medicine Humans 030212 general & internal medicine Child Retrospective Studies business.industry Infant Newborn lcsh:RJ1-570 Type 2 Diabetes Mellitus lcsh:Pediatrics medicine.disease Europe Diabetes Mellitus Type 2 Mutation Pediatrics Perinatology and Child Health Etiology Donohue syndrome business Research Article |
Zdroj: | BMC Pediatrics, Vol 21, Iss 1, Pp 1-8 (2021) BMC Pediatrics |
ISSN: | 1471-2431 |
Popis: | Background The prevalence of monogenic diabetes is estimated to be 1.1–6.3% of patients with diabetes mellitus (DM) in Europe. The overlapping clinical features of various forms of diabetes make differential diagnosis challenging. Therefore, this study investigated the etiologic distribution and clinical characteristics of pediatric diabetes, including monogenic diabetes, who presented at a single tertiary center over the last 20 years. Methods This study included 276 consecutive patients with DM diagnosed before 18 years of age from January 2000 to December 2019 in Korea. Clinical features, biochemical findings, β-cell autoantibodies, and molecular characteristics were reviewed retrospectively. Results Of the 276 patients, 206 patients (74.6%), 49 patients (17.8%), and 21 patients (7.6%) were diagnosed with type 1 DM, type 2 DM, and clinically suspected monogenic diabetes, respectively. Among 21 patients suspected to have monogenic diabetes, 8 patients had clinical maturity-onset diabetes of the young (MODY), and the remaining 13 patients had other types of monogenic diabetes. Among them, genetic etiologies were identified in 14 patients (5.1%) from 13 families, which included MODY 5, transient neonatal DM, developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, Wolfram syndrome, Donohue syndrome, immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, Fanconi-Bickel syndrome, Wolcott-Rallison syndrome, cystic fibrosis-related diabetes, and maternally inherited diabetes and deafness. Conclusions Genetically confirmed monogenic diabetes accounted for 5.1% of patients evaluated at a single tertiary center over 20-year period. Based on the findings for our sample, the frequency of mutations in the major genes of MODY appears to be low among pediatric patients in Korea. It is critical to identify the genetic cause of DM to provide appropriate therapeutic options and genetic counseling. |
Databáze: | OpenAIRE |
Externí odkaz: |