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Matthay等报导260例生后几小时内死亡的新生儿中有4例是由于红细胞酶病所致,2例为丙酮酸激酶缺乏,丙糖磷酸异构酶及葡萄糖磷酸异构酶(GPI)缺乏各1例。常见的G-6-PD缺乏极少合并胎儿水肿。病例一近亲婚配妇女妊娠6次,前5次均为死胎或生后不久即死亡。第6胎于35周胎龄时诊为水胎儿而行剖腹,胎儿重2.25kg,全身有水肿、腹水和肝肿大。脐血血红蛋白79g/L,网织红细胞20%,胆红素137μmol/L(8.0mg/dL)。血型ORh(+),直接Coombs试验阴性。生后72小时内交换输血5次,光疗120小时。以后每当血红蛋白<70g/L时即输血,至2岁共输血20次。皮肤轻度黄染,有肝脾肿大。
Matthay et al. Reported that 4 of the 260 newborns who died within a few hours after birth were due to erythrocytic enzymes, 2 were deficient in pyruvate kinase, 3 were deficient in triosephosphate isomerase and glucose phosphate isomerase (GPI) One case each. Common G-6-PD deficiency is rarely associated with fetal edema. A case of cousins married women with 6 pregnancies, the first 5 were stillbirths or died soon after birth. The 6th child was diagnosed with fetal water fetus at 35 weeks gestational age. The fetus was 2.25kg in weight and had edema, ascites and hepatomegaly. Cord blood hemoglobin 79g / L, reticulocyte 20%, bilirubin 137μmol / L (8.0mg / dL). Blood type ORh (+), direct Coombs test negative. Blood transfusion was exchanged within 72 hours after birth, phototherapy 120 hours. After each hemoglobin <70g / L when the blood transfusion, to 2 years old total transfusion 20 times. Mild yellow skin, liver and spleen enlargement.