Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease

Inflamm Bowel Dis. 2021 Oct 20;27(11):1853-1857. doi: 10.1093/ibd/izab139.

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.

Keywords: children; genetics; mevalonate kinase deficiency; very-early-onset inflammatory bowel disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Inflammatory Bowel Diseases* / drug therapy
  • Inflammatory Bowel Diseases* / etiology
  • Interleukin-1 / antagonists & inhibitors
  • Mevalonate Kinase Deficiency* / complications
  • Mevalonate Kinase Deficiency* / diagnosis
  • Mevalonate Kinase Deficiency* / drug therapy

Substances

  • Interleukin-1