Women and Newborns Program, Intermountain Healthcare, Salt Lake City, Utah 84403, USA.
Pediatrics. 2013 Aug;132(2):e531-4. doi: 10.1542/peds.2012-3799. Epub 2013 Jul 22.
We cared for a term female newborn, who at 108 hours of age, with a total serum bilirubin of 15.4 mg/dL, was discharged from the hospital on home phototherapy. At a return appointment 44 hours later, her total serum bilirubin was 41.7 mg/dL and signs of acute kernicterus were present. Maternal/fetal blood group O/B incompatibility was identified, with a negative direct antiglobulin test, which was positive on retesting. She had abundant spherocytes on blood smear, and these persisted at follow-up, but neither parent had spherocytes identified. A heterozygous SLC4A1(E508K) mutation (gene encoding erythrocyte membrane protein band 3) was found, and in silico predicted to result in damaged erythrocyte cytoskeletal protein function. No mutations were identified in other red cell cytoskeleton genes (ANK1, SPTA1, SPTB, EPB41, EPB42) and the UGT1A1 promoter region was normal. Neurologic follow-up at 2 and 4 months showed developmental delays consistent with mild kernicterus.
我们治疗了一名足月女婴，她在出生 108 小时时总血清胆红素为 15.4mg/dL，出院后在家中接受光疗。44 小时后的复诊中，她的总血清胆红素为 41.7mg/dL，出现急性核黄疸的迹象。母亲/胎儿血型 O/B 不合，直接抗球蛋白试验阴性，但再次检测为阳性。她的血涂片上有大量球形红细胞，随访时仍存在，但父母双方均未发现球形红细胞。发现了杂合子 SLC4A1(E508K)突变（编码红细胞膜蛋白带 3 的基因），计算机预测该突变会导致红细胞细胞骨架蛋白功能受损。其他红细胞细胞骨架基因（ANK1、SPTA1、SPTB、EPB41、EPB42）未发现突变，UGT1A1 启动子区域正常。2 个月和 4 个月的神经随访显示发育迟缓，符合轻度核黄疸的表现。
