FETAL ANEMIA DUE TO PYRUVATE-KINASE DEFICIENCY

被引：39

作者：

GILSANZ, F

VEGA, MA

GOMEZCASTILLO, E

RUIZBALDA, JA

OMENACA, F

机构：

[1] UNIV COMPLUTENSE MADRID, HOSP 12 OCTUBRE, DIV NEONATOL, MADRID 3, SPAIN

[2] UNIV COMPLUTENSE MADRID, HOSP 12 OCTUBRE, DIV OBSTETR & GYNECOL, MADRID 3, SPAIN

来源：

ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION | 1993年 / 69卷 / 05期

关键词：

D O I：

10.1136/adc.69.5_Spec_No.523

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：523 / 524

页数：2

共 7 条

[1]

Beutler E, 1975, MANUAL BIOCH METHODS, P112

[2] IDENTICAL POINT MUTATIONS OF THE R-TYPE PYRUVATE-KINASE (PK) CDNA FOUND IN UNRELATED PK VARIANTS ASSOCIATED WITH HEREDITARY HEMOLYTIC-ANEMIA [J].