hrp0089p2-p066 | Diabetes & Insulin P2 | ESPE2018

Prothrombin Gene 20210A Mutation Heterozygosity and MTHFR Gene C677T Mutation Homozygosity Detected in a Male Toddler Experiencing Femoral Venous Thrombosis During Diabetic Ketoacidosis

Kleisarchaki Angeliki N , Giza Styliani , Nikolaidou Olga , Mouzaki Konstantina , Kotanidou Eleni P , Litou Eleni , Rengina Tsinopoulou Vasiliki , Papadakis Emmanouil , Galli-Tsinopoulou Assimina

Introduction: Diabetic ketoacidosis (DKA) as an inflammatory state combined with the disruption of the normal coagulation cascade can lead patients to an increased risk of thrombosis. Especially, patients that are genetically susceptible to thrombosis could develop deep venous thrombosis (DVT) due to inflammation, dehydration, and hyperviscosity secondarily to DKA. It is noteworthy that children with DKA who underwent central venous catheter placement could develop DVT, especi...

hrp0089p3-p283 | Multisystem Endocrine Disorders P3 | ESPE2018

Rapid Onset and Progression of Chronic Kidney Disease in a Child with Autoimmune Polyglandular Syndrome Type 1

Rengina Tsinopoulou Vasiliki , Kotanidou Eleni P , Grammatiki Maria , Giza Styliani , Tzirtzipis Tasos , Nikolaidou Olga , Litou Eleni , Liarogkovinos Theodoros , Tramma Despina , Pateinakis Panagiotis , Papadopoulou Dorothea , Galli-Tsinopoulou Assimina

Introduction: Autoimmune Polyglandular Syndrome Type 1 (APS-1) is a rare autosomal recessive hereditary disorder resulting from a mutation in the AIRE gene. APS-1 is characterized by three classic clinical features: hypoparathyroidism, AddisonÂ’s disease and chronic mucocutaneous candidiasis. Additionally to the classic triad, the phenotype of APS-1 includes several endocrine and non-endocrine autoimmune manifestations. Purpose:Topresent a rapid onset and progression of ch...