[Prenatal diagnosis of homozygous pyruvate kinase deficiency].
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.
Afriat
R
R
Service de Gynécologie-Obstétrique, Hôpital Notre-Dame-de-Bon-Secours, Paris.
Lecolier
B
B
Prehu
M O
MO
Sauvanet
E
E
Bercau
G
G
Audit
I
I
Galacteros
F
F
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
D011770:Pyruvate Kinase
Déficit homozygote en pyruvate kinase à révélation anténatale.