title: [Prenatal diagnosis of homozygous pyruvate kinase deficiency].
abstract: Two consecutive cases of severe neonatal anaemia due to severe deficiency in pyruvate kinase were observed in the same sibhood. The first child died one hour after birth and the second required major transfusion support. Pyruvate kinase deficiency is a rare cause of congenital anaemia with recessive autosomic inheritance. Clinically, this deficiency has a very variable expression, and neonatal forms are not always very severe. Several variant molecules in pyruvate kinase deficiency have been described. Recent progress in our understanding of the gene would suggest the possibility of new diagnostic and prognostic approaches.
authors.affiliation: Service de Gynécologie-Obstétrique, Hôpital Notre-Dame-de-Bon-Secours, Paris.
authors.forename: R
authors.initials: R
authors.lastname: Afriat
authors.forename: B
authors.initials: B
authors.lastname: Lecolier
authors.forename: M O
authors.initials: MO
authors.lastname: Prehu
authors.forename: E
authors.initials: E
authors.lastname: Sauvanet
authors.forename: G
authors.initials: G
authors.lastname: Bercau
authors.forename: I
authors.initials: I
authors.lastname: Audit
authors.forename: F
authors.initials: F
authors.lastname: Galacteros
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000209:etiology; D005078:Exchange Transfusion, Whole Blood; D005260:Female; D005323:Fetal Monitoring; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D011296:Prenatal Diagnosis; D011770:Pyruvate Kinase / Q000172:deficiency*; D015323:Pyruvate Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000628:therapy
chemical_list: D011770:Pyruvate Kinase
vernacular_title: Déficit homozygote en pyruvate kinase à révélation anténatale.