Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency
International audience ; The aim of this study was to describe the clinical and biological features of Mevalonate kinase deficiency (MKD) in patients diagnosed in adulthood. This is a French and Belgian observational retrospective study from 2000 to 2014. To constitute the cohort, we cross-check the genetic and biochemical databases. The clinical, enzymatic, and genetic data were gathered from medical records. Twenty-three patients were analyzed. The mean age at diagnosis was 40 years, with a mean age at onset of symptoms of 3 years. All symptomatic patients had fever. Febrile attacks were mos... Mehr ...
Verfasser: | |
---|---|
Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2016 |
Verlag/Hrsg.: |
HAL CCSD
|
Schlagwörter: | CRP = C-reactive protein / ENT = ear-nose-throat / HIDS = Hyperimmunoglobulinemia D and periodic fever syndrome / Ig = immunoglobulin / IL = Interleukin / MA = mevalonic aciduria / MK = mevalonate kinase / MKD = Mevalonate kinase deficiency / [SDV]Life Sciences [q-bio] |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26502392 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://hal.umontpellier.fr/hal-01847009 |