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Orientador(es)
Resumo(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.
Descrição
Palavras-chave
Pyruvate kinase Hydrops fetalis Haemolytic anaemia Mutations
Contexto Educativo
Citação
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