Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings
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Date
2020-02
Journal Title
Journal ISSN
Volume Title
Publisher
Indian Academy of Pediatrics
Abstract
Mevalonate kinase deficiency (MKD) is a rare autosomalrecessive autoinflammatory disease caused by mutations inMVK. We report two siblings with MKD, presenting withrecurrent febrile illnesses, detected to have compoundheterozygous variants in MVK. MKD mimics common pediatricconditions and should be considered as a differential diagnosis.
Description
Keywords
Hyper-IgD syndrome, Pyrexia of unknown origin,Neonatal hepatitis, Periodic fever
Citation
Alec Reginald Errol Correa, Gupta Neerja, Bagri Narendra, Pandiarajan Vignesh, Alam Seema, Yamaguchi Seiji. Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings. Indian Pediatrics. 2020 Feb; 57(2): 180-181