ACR Meeting Abstracts
Abstract Number: 151 • Pediatric Rheumatology Symposium 2017
Sarka Fingerhutova1, Lenka Dvorakova2, Petr Chrastina2, Eva Jancova3, Petra Keslova4, Adam Klocperk5, Marcel Schuller6, Alexander Kolsky7 and Pavla Dolezalova1, 1Paediatric Rheumatology Unit, General University Hospital in Prague and 1st Faculty of Medicine, Charles University, General University Hospital in Prague and 1st Faculty of Medicine, Prague, Czech Republic, 2Institute of Inherited Metabolic Disorders, Institute of Inherited Metabolic Disorders, 1 st Faculty of Medicine Charles University and General University Hospital in Prague, Prague, Czech Republic, 3Department of Nephrology, General University Hospital in Prague and 1st Faculty of Medicine, Prague, Czech Republic, 4Department of Paediatric Haematology and Oncology, 2 nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 2 nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic, 5Department of Immunology, 2 nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 2 nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic, 6Paediatric Rheumatology Unit, University Hospital Brno, Brno, Czech Republic, 7Department of Children and Adolescents, 3 rd Faculty od Medicine, Charles University in Prague, Prague, Czech Republic
Background/Purpose: Disease phenotype of mevalonate-kinase (MVK) deficiency (MKD) varies in relation to the extent of enzymatic activity reduction. It ranges from multi-organ involvement with fatal…