1. Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease
- Author
-
Albert Faye, Vanessa Remy-Piccolo, Alexandre Belot, Isabelle Melki, Fabienne Charbit-Henrion, Sophie Georgin-Lavialle, Dominique Berrebi, Pierre Quartier, Nadine Cerf Bensussan, Florence Uettwiller, Frank M. Ruemmele, Laurence Cuisset, Andreia Luís Martins, Brigitte Bader-Meunier, Ulrich Meinzer, and Jérôme Viala
- Subjects
medicine.medical_specialty ,Mevalonate kinase deficiency ,business.industry ,Gastroenterology ,medicine.disease ,Peritoneal adhesions ,Inflammatory bowel disease ,Very early onset ,digestive system diseases ,Mevalonic aciduria ,Internal medicine ,Immunology and Allergy ,Medicine ,In patient ,business - Abstract
Mevalonate kinase deficiency should be considered in patients with severe very-early-onset inflammatory bowel disease (IBD), especially in patients with a history of recurrent or chronic fever, peritoneal adhesions, and atypical IBD pathology. Anti-interleukin-1 therapy may be efficacious in these patients with monogenic very-early-onset IBD.
- Published
- 2021
- Full Text
- View/download PDF