Case Reports
doi: 10.1136/adc.69.5_spec_no.523.Fetal anaemia due to pyruvate kinase deficiency
Affiliations
- PMID:8285758
- PMCID: PMC1029598
- DOI: 10.1136/adc.69.5_spec_no.523
Item in Clipboard
Case Reports
Fetal anaemia due to pyruvate kinase deficiency
F Gilsanz et al. Arch Dis Child.1993 Nov.
Display options
Format
Display options
Format
Abstract
Pyruvate kinase deficiency was diagnosed in an infant by umbilical vessel sampling at 30 weeks' gestation. Although three previous hydropic siblings had been stillborn or died in the neonatal period, this infant survived with transfusion dependent haemolytic anaemia. Prompt fetal diagnosis of pyruvate kinase deficiency is feasible and allows better management of hydrops fetalis due to this disorder.
Similar articles
- [Prenatal diagnosis of homozygous pyruvate kinase deficiency].Afriat R, Lecolier B, Prehu MO, Sauvanet E, Bercau G, Audit I, Galacteros F.Afriat R, et al.J Gynecol Obstet Biol Reprod (Paris). 1995;24(1):81-4.J Gynecol Obstet Biol Reprod (Paris). 1995.PMID:7730575Review.French.
- [Hereditary haemolytic anaemia due to pyruvate kinase deficiency. Prognosis of neonatal forms (author's transl)].Boivin P, Ottenwaelter T.Boivin P, et al.Nouv Presse Med. 1982 Mar 13;11(12):917-9.Nouv Presse Med. 1982.PMID:7063368French.
- Pyruvate kinase deficiency hemolytic anemia: two successful pregnancy outcomes.Fanning J, Hinkle RS.Fanning J, et al.Am J Obstet Gynecol. 1985 Oct 1;153(3):313-4. doi: 10.1016/s0002-9378(85)80121-6.Am J Obstet Gynecol. 1985.PMID:4050899
- Nonspherocytic haemolytic anaemia and severe jaundice in a newborn with partial pyruvate kinase deficiency.Volpato S, Vigi V, Cattarozzi G.Volpato S, et al.Acta Paediatr Scand. 1968 Jan;57(1):59-64. doi: 10.1111/j.1651-2227.1968.tb07287.x.Acta Paediatr Scand. 1968.PMID:5637012No abstract available.
- Haemolysis due to pyruvate kinase deficiency and other glycolytic enzymopathies.Glader BE, Nathan DG.Glader BE, et al.Clin Haematol. 1975 Feb;4(1):123-38.Clin Haematol. 1975.PMID:1102179Review.No abstract available.
Cited by
- Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency.Garcia-Gomez M, Calabria A, Garcia-Bravo M, Benedicenti F, Kosinski P, López-Manzaneda S, Hill C, Del Mar Mañu-Pereira M, Martín MA, Orman I, Vives-Corrons JL, Kung C, Schambach A, Jin S, Bueren JA, Montini E, Navarro S, Segovia JC.Garcia-Gomez M, et al.Mol Ther. 2016 Aug;24(7):1187-98. doi: 10.1038/mt.2016.87. Epub 2016 May 3.Mol Ther. 2016.PMID:27138040Free PMC article.
- Fetal Pyruvate Kinase Deficiency Identified Incidentally in a Chinese Family at Risk for α-Thalassemia.Han J, Li J, Li DZ.Han J, et al.Indian J Hematol Blood Transfus. 2022 Apr;38(2):424-426. doi: 10.1007/s12288-021-01505-x. Epub 2021 Nov 30.Indian J Hematol Blood Transfus. 2022.PMID:35496968Free PMC article.No abstract available.
- Haemolytic disease of the newborn.Murray NA, Roberts IA.Murray NA, et al.Arch Dis Child Fetal Neonatal Ed. 2007 Mar;92(2):F83-8. doi: 10.1136/adc.2005.076794.Arch Dis Child Fetal Neonatal Ed. 2007.PMID:17337672Free PMC article.Review.
- Updates and advances in pyruvate kinase deficiency.Luke N, Hillier K, Al-Samkari H, Grace RF.Luke N, et al.Trends Mol Med. 2023 May;29(5):406-418. doi: 10.1016/j.molmed.2023.02.005. Epub 2023 Mar 17.Trends Mol Med. 2023.PMID:36935283Free PMC article.Review.
- Erythrocyte disorders in the perinatal period.Steiner LA, Gallagher PG.Steiner LA, et al.Semin Perinatol. 2007 Aug;31(4):254-61. doi: 10.1053/j.semperi.2007.05.003.Semin Perinatol. 2007.PMID:17825683Free PMC article.Review.
References
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical