Year: 2024
Type: article
Study design: Case Report
Abstract: Kabuki syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual disability, skeletal abnormalities, short stature, and dermatological disorders, among other clinical manifestations. There is an increased risk of associated autoimmune diseases (such as thrombocytopenic purpura, hemolytic anemia, vitiligo, and type 1 diabetes). Type 1 diabetes is caused by autoimmune destruction of the beta cells of the pancreas and is the most common form of diabetes in children and adolescents. We present three pediatric patients with a diagnosis of Kabuki syndrome and type 1 diabetes, two of whom have an associated second autoimmune disease.
Source: Archivos Argentinos de Pediatria
Authors: María E Andrés, Malena Silberkasten, Nuria Grimberg, Yesica Domínguez, Erika San Martin
Institution: Hospital Pedro de Elizalde
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4403828353