RESUMEN
Maturity-onset diabetes of the young (MODY) is part of the heterogeneous group of monogenic diabetes (MD) characterized by the non-immune dysfunction of pancreatic ß-cells. The diagnosis of MODY still remains a challenge for clinicians, with many cases being misdiagnosed as type 1 or type 2 diabetes mellitus (T1DM/T2DM), and over 80% of cases remaining undiagnosed. With the introduction of modern technologies, important progress has been made in deciphering the molecular mechanisms and heterogeneous etiology of MD, including MODY. The aim of our study was to identify genetic variants associated with MODY in a group of patients with early-onset diabetes/prediabetes in whom a form of MD was clinically suspected. Genetic testing, based on next-generation sequencing (NGS) technology, was carried out either in a targeted manner, using gene panels for monogenic diabetes, or by analyzing the entire exome (whole-exome sequencing). GKC-MODY 2 was the most frequently detected variant, but rare forms of KCNJ11-MODY 13, specifically, HNF4A-MODY 1, were also identified. We have emphasized the importance of genetic testing for early diagnosis, MODY subtype differentiation, and genetic counseling. We presented the genotype-phenotype correlations, especially related to the clinical evolution and personalized therapy, also emphasizing the particularities of each patient in the family context.
Asunto(s)
Diabetes Mellitus Tipo 2 , Asesoramiento Genético , Pruebas Genéticas , Humanos , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/diagnóstico , Pruebas Genéticas/métodos , Masculino , Femenino , Adulto , Medicina de Precisión/métodos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Adolescente , Canales de Potasio de Rectificación Interna/genética , Adulto Joven , Niño , Factor Nuclear 4 del Hepatocito/genética , Secuenciación del Exoma/métodos , Predisposición Genética a la Enfermedad , MutaciónRESUMEN
UNLABELLED: The purpose of this study is to evaluate symptomatology, endoscopic and histopathologic changes of Helicobacter pylori infection and gastritis lesions without Helicobacter pylori infection on children diagnosed with celiac disease. MATERIAL AND METHOD: 15 children under gluten-free diet were selected and, because of the recurrence of the dyspeptic syndrome, an upper digestive endoscopy associated with histopathologic exam was performed. Considering the histopathologic result we made two groups: first group (8 children with celiac disease and Helicobacter pylori infection) and second group (7 children with celiac disease without Helicobacter pylori infection, but associated with gastritis lesions). RESULTS: The main symptom was diffuse abdominal pain in both groups. The endoscopic antrum aspects were congestive with striped aspect (first group--12.5%, second group--42.9%) and congestive with nodulation (first group--25%, second group--14.3%). The histopathologic diagnosis were: moderate active chronic pangastritis (first group--25%, second group--14.3%) moderate active chronic gastritis (first group--25%,second group--14.3%), lymphocytic gastritis (first group--12.5%, second group--14.3%). CONCLUSION: The histopathologic exam remains the gold standard for celiac disease, gastritis lesions and Helicobacter pylori infection.