Masson P, Rigot A, Cécile W
Service de soins intensifs néonatals et pédiatriques, hôpital Victor-Fouche, centre hospitalier régional et universitaire, Fort-de-France, France.
Arch Pediatr. 1995 Jun;2(6):541-4. doi: 10.1016/0929-693x(96)81197-3.
Antenatal manifestation of glucose-6-phosphate dehydrogenase deficiency is uncommon.
A male was born by caesarian section at 34 weeks of GA for hydrops fetalis (HF). Fetal ultrasonography showed hydrops fetalis for the first time at 24 weeks of GA. All investigations were normal, except moderate anemia (Hb: 11.5 g/dl) and important erythroblastosis (67%) in the fetal blood sampling at 25 weeks. HF spontaneously resolved, until caesarian section at 34 weeks for recurrence of HF. Hydrops and neonatal anemia were successfully treated with pleural and peritoneal aspiration and blood transfusion. At the age of 4 months, investigations showed low levels of G-6-PD activity. At the age of 12 months, the child's growth and development appeared to be appropriate.
Diagnosis of G-6-PD deficiency must be suspected when HF due to anemia occurs in a population at risk; it could be confirmed by an enzyme study of fetal red blood cells.
葡萄糖-6-磷酸脱氢酶缺乏症的产前表现并不常见。
一名男性在孕34周时因胎儿水肿行剖宫产出生。胎儿超声检查在孕24周时首次发现胎儿水肿。所有检查均正常，仅在孕25周时胎儿血样检查发现中度贫血（血红蛋白：11.5g/dl）及明显的成红细胞增多症（67%）。胎儿水肿自行消退，直至孕34周因胎儿水肿复发而行剖宫产。通过胸腔和腹腔穿刺及输血成功治疗了水肿和新生儿贫血。4个月大时，检查显示葡萄糖-6-磷酸脱氢酶活性水平较低。12个月大时，患儿生长发育正常。
当处于风险人群中因贫血导致胎儿水肿时，必须怀疑葡萄糖-6-磷酸脱氢酶缺乏症的诊断；可通过对胎儿红细胞进行酶学研究来确诊。
