hrp0084p2-258 | Diabetes | ESPE2015

Cardiac Autonomic Neuropathy is Highly Predictive for Survival in Children with Mauriac Syndrome

Arshinkova Margarita , Slavcheva Olga , Konstantinova Maia

Background: Diabetic autonomic neuropathy (DAN) is predictive for subsequent mortality mainly due to terminal renal insufficiency. DAN is screened by cardiac tests based on heart rate variability (HRV).Aim: To assess cardiac autonomic neuropathy (CAN) and its predictive value for survival in children with Mauriac syndrome.Material and methods: The study included 12 patients with Mauriac syndrome (growth retardation, hepatomegaly an...

hrp0094p2-109 | Diabetes and insulin | ESPE2021

Clinical Case of Cystic Fibrosis-like and APECED-like Syndrome due to Gain-of-Function Variant in STAT1

Vasilev Teodor , Johnson Matthew , Yaneva Natasha , Slavcheva Olga , Modeva Iskra , Hattersley Andrew , Savova Radka ,

Background: STAT1 mutations can cause an extensive spectrum of disease, varying from severe bacterial and viral infections to mild disseminated mycobacterial disease, also chronic mucocutaneous candidiasis. Many patients present with autoimmune manifestations as type 1 diabetes, hypothyroidism and systemic lupus erythematosus. There are risks of cancers and cerebral aneurysms.Aim: To present the clinical manifes...