Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency |
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Authors: | P. Ferreira L. Morais R. Costa C. Resende C. Paz Dias F. Araújo E. Costa J. Barbot A. Vilarinho |
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Affiliation: | Unidade de Cuidados Intensivos, Hospital de Crian?as Maria Pia, Rua da Boavista, 827, P-4050 Porto, Portugal, PT
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Abstract: | 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 differential diagnosis of non-immune hydrops fetalis. This has important implications for clinical investigations, therapy and genetic counselling. Received: 15 November 1998 / Accepted in revised form: 17 April 1999 |
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Keywords: | Pyruvate kinase Haemolytic anaemia Hydrops fetalis Mutations |
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