hrp0086rfc5.7 | Management of Disorders of Insulin Secretion | ESPE2016

Early Successful Hematopoietic Cell Transplantation (HSCT) in a Boy with IPEX Syndrome Caused by Novel C.721T>C FOXP3 Mutation

Obermannova Barbora , Formankova Renata , Sumnik Zdenek , Dusatkova Lenka , Pruhova Stepanka , Kayserova Jana , Sedlacek Petr , Lebl Jan

Background: IPEX (OMIM #304790) is a rare and fatal, X-linked immune dysregulatory disorder caused by mutation in transcription factor FOXP3 that result in either quantitative or functional deficiencies of Tregs causing autoimmune disease and allergic inflammation. HSCT is the only curative therapy available for IPEX patients.Objective: Presented boy was born at 38th GW with birth weight 3380 g and birth length 50 cm. Three maternal brothers d...

hrp0086p1-p895 | Thyroid P1 | ESPE2016

Thyroid Cancer is the Most Frequent Secondary Solid Tumour Following Allogeneic Stem Cell Transplantation in Childhood – A Single Centre Experience

Snajderova Marta , Keslova Petra , Sedlacek Petr , Formankova Renata , Riha Petr , Stary Jan

Backgroud: Allogeneic haematopoietic stem cell transplantation (HSCT) is a potentially curative therapy for a variety of malignant and non-malignant disorders. With improved outcomes, increasing attention has been drawn to late complications in long-term survivors. Secondary cancer belongs to the most serious complications.Objective: Occurrence of secondary solid tumours at HSCT Unit, University Hospital Prague- Motol was analysed....

hrp0082p1-d2-32 | Autoimmune Endocrine Disease | ESPE2014

Papillary Thyroid Cancer After Hematopoietic Stem Cell Transplantation in Young Age

Snajderova Marta , Keslova Petra , Sykorova Pavla , Sedlacek Petr , Formankova Renata , Stary Jan

Background: Increasing number of survivors following hematopoietic stem cell transplantation (HSCT) leads to necessity to focus also on careful monitoring for late effects. High dose chemotherapy and total body irradiation (TBI) is used for conditioning regimen in many patients. Thyreopathies belong to the most frequent among late endocrinopathies.Objective: Aim of the study was to evaluate incidence of secondary thyroid malignancies after HSCT in young ...