A Novel Missense Mutation in MVK Associated With MK Deficiency and Dyserythropoietic Anemia

作者：Samkari Ayman; Borzutzky Arturo; Fermo Elisa; Treaba Diana O; Dedeoglu Fatma; Altura Rachel A^*

来源：Pediatrics, 2010, 125(4): E964-E968.

DOI：10.1542/peds.2009-1774

• congenital dyserythropoietic anemia
• hyperimmunoglobulinemia D syndrome
• mevalonate kinase
• mevalonic aciduria
• periodic fevers

Mevalonate kinase deficiency (MKD) is a rare inborn error of metabolism caused by mutations in the mevalonate kinase (MVK) gene. The clinical phenotype is variable, ranging from the hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) to mevalonic aciduria (MA), a severe metabolic disease. We report here for the first time (to our knowledge) the case of a patient with MKD and congenital dyserythropoietic anemia. Clinical and laboratory characteristics of inflammatory attacks were compatible with HIDS, but mild dysmorphic features and elevated urinary mevalonic acid levels in the absence of an inflammatory attack suggested an intermediate phenotype between HIDS and MA. Genomic sequencing of the MVK gene revealed compound heterozygosity for a missense mutation previously described in MA (V310M) and a novel missense mutation (Y116H). By contrast, sequencing of the novel CDAII (SEC23B) gene revealed no mutations, suggesting that the bone marrow abnormalities were causally related to the MKD. Treatment with corticosteroids and colchicine directed at controlling the autoinflammatory disease resulted in improvement of the anemia. Pediatrics 2010; 125: e964-e968

• 出版日期2010-4