Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency.
The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease.


CONCLUSIONS
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.
Unidade de Cuidados Intensivos, Hospital de Crianças Maria Pia, Porto, Portugal.
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P
Ferreira
L
L
Morais
R
R
Costa
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Resende
C P
CP
Dias
F
F
Araújo
E
E
Costa
J
J
Barbot
A
A
Vilarinho
D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D003937:Diagnosis, Differential; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D015160:Hydrops Fetalis / Q000209:etiology* / Q000235:genetics; D007231:Infant, Newborn; D011247:Pregnancy; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics
D011770:Pyruvate Kinase