[A new case of rare erythrocytosis due to EGLN1 mutation with review of the literature].
Fiche publication
Date publication
janvier 2020
Journal
La Revue de medecine interne
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GIRODON François
Tous les auteurs :
Bonnin A, Gardie B, Girodon F, Airaud F, Garrec C, Bézieau S, Vignon G, Mottaz P, Labrousse J, Lellouche F
Lien Pubmed
Résumé
The origin of polycythemia is often simple to detect. Sometimes it is necessary to look for hereditary forms, the decisive parameters being the dosage of erythropoietin and the measurement of the oxygen dissociation curve (P50). These rare diseases are related to high oxygen-affinity haemoglobins, abnormalities of the erythropoietin receptor or dysfunction of the HIF (hypoxia-inducible factor) pathway.
Mots clés
C.400C>T (p.Gln134*), EGLN1 mutation, Hereditary erythrocytosis, Hypoxia pathway, Hypoxie, Mutation EGLN1, PHD2, Polyglobulie héréditaire
Référence
Rev Med Interne. 2020 Jan 21;: