Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

Ferreira, Paula; Morais, Lurdes; Costa, Ricardo; Resende, C.; Dias, Clara Paz; Araújo, Filomena; Costa, Elísio; Barbot, José; Vilarinho, António

http://hdl.handle.net/10198/495

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Authors

Abstract(s)

The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease. Conclusion Pyruvate kinase deficiency, as other erythrocyte enzymopathies, must be considered in the diferential diagnosis of non-immune hydrops fetalis. This has important implications for clinical investigations, therapy and genetic counselling.

Keywords

Pyruvate kinase Hydrops fetalis Haemolytic anaemia Mutations

URI

http://hdl.handle.net/10198/495

Citation

Ferreira, Paula; Morais, Lurdes; Costa, Ricardo; Resende, Carlos; Paz Dias, Clara; Araújo, Filomena; Costa, Elísio; Barbot, José; Vilarinho, António (2000). Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency. European Journal of Pediatrics. ISSN 0340-6199. 159:7, p. 481-482