Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark.
Department of Clinical Medicine, Aalborg University Hospital, Aalborg, Denmark.
Pediatr Res. 2018 Aug;84(2):228-232. doi: 10.1038/s41390-018-0066-0. Epub 2018 May 31.
Galactosemia has not been recognized as a cause of extreme neonatal hyperbilirubinemia, although growing evidence supports this association.
In a retrospective cohort study, we identified children with galactosemia due to GALT deficiency using the Danish Metabolic Laboratory Database. Among these, we identified children with extreme neonatal hyperbilirubinemia or symptoms of ABE. Extreme neonatal hyperbilirubinemia was defined as maximum total serum bilirubin (TSB) level ≥450 µmol/L and a ratio of conjugated serum bilirubin/TSB <0.30.
We identified 21 children with galactosemia (incidence:1:48,000). Seven children developed extreme neonatal hyperbilirubinemia (median [range] TSB level: 491 [456-756] µmol/L), accounting for 1.7% of all extreme neonatal hyperbilirubinemia cases. During the first 10 days of life, hyperbilirubinemia was predominantly of unconjugated type. Four children developed symptoms of intermediate/advanced ABE. One additional child had symptoms of intermediate/advanced ABE without having extreme neonatal hyperbilirubinemia. On follow-up, one child had KSD.
Galactosemia is a potential cause of extreme neonatal hyperbilirubinemia, ABE, and KSD. It is crucial that putative galactosemic children are treated aggressively with phototherapy to prevent ABE and KSD. Thus it is important that galactosemia is part of the work up for unconjugated hyperbilirubinemia.
尽管越来越多的证据支持半乳糖血症与新生儿重度高胆红素血症相关，但半乳糖血症尚未被认为是新生儿重度高胆红素血症的病因。
在一项回顾性队列研究中，我们使用丹麦代谢实验室数据库确定了由于 GALT 缺乏导致的半乳糖血症患儿。在这些患儿中，我们确定了有重度新生儿高胆红素血症或 ABE 症状的患儿。重度新生儿高胆红素血症定义为最大总血清胆红素（TSB）水平≥450μmol/L，结合型血清胆红素/TSB<0.30。
我们确定了 21 例半乳糖血症患儿（发病率为 1:48000）。7 例患儿出现重度新生儿高胆红素血症（中位[范围]TSB 水平：491[456-756]μmol/L），占所有重度新生儿高胆红素血症病例的 1.7%。在生命的前 10 天，高胆红素血症主要为未结合型。4 例患儿出现中/重度 ABE 症状。另有 1 例患儿有中/重度 ABE 症状但无重度新生儿高胆红素血症。随访时，1 例患儿出现 KSD。
半乳糖血症是新生儿重度高胆红素血症、ABE 和 KSD 的潜在病因。对半乳糖血症患儿积极进行光疗治疗至关重要，以预防 ABE 和 KSD。因此，半乳糖血症是未结合型高胆红素血症检查的重要组成部分。
