丙酮酸激酶缺乏所致的胎儿贫血。
Fetal anaemia due to pyruvate kinase deficiency.
作者信息
Gilsanz F, Vega M A, Gómez-Castillo E, Ruiz-Balda J A, Omeñaca F
机构信息
Hospital 12 de Octubre, Universidad Complutense, Division of Haematology, Madrid, Spain.
出版信息
Arch Dis Child. 1993 Nov;69(5 Spec No):523-4. doi: 10.1136/adc.69.5_spec_no.523.
Abstract
Pyruvate kinase deficiency was diagnosed in an infant by umbilical vessel sampling at 30 weeks' gestation. Although three previous hydropic siblings had been stillborn or died in the neonatal period, this infant survived with transfusion dependent haemolytic anaemia. Prompt fetal diagnosis of pyruvate kinase deficiency is feasible and allows better management of hydrops fetalis due to this disorder.
摘要
一名婴儿在妊娠30周时通过脐血管采样被诊断为丙酮酸激酶缺乏症。尽管此前有三个患水肿病的同胞均为死产或在新生儿期死亡，但该婴儿依靠输血维持的溶血性贫血存活了下来。丙酮酸激酶缺乏症的产前快速诊断是可行的，并且能够更好地处理由该病症导致的胎儿水肿。
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