Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

• Author(s): Ferreira, Paula ; Morais, Lurdes ; Costa, Ricardo ; Resende, Carlos ; Paz Dias, Clara ; Araújo, Filomena ; Costa, Elísio ; Barbot, José ; Vilarinho, António
• Date: 2000
• Persistent ID: http://hdl.handle.net/10198/495
• Origin: Biblioteca Digital do IPB
• Subject(s): Pyruvate kinase; Hydrops fetalis; Haemolytic anaemia; Mutations
• Document Type: Article
• Language: English

Description

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.