Department of Neurology and Rehabilitation, University of Illinois at Chicago College of Medicine, 912 S Wood St, Chicago, IL, 60612, USA.
Curr Neurol Neurosci Rep. 2022 Jul;22(7):343-353. doi: 10.1007/s11910-022-01204-8. Epub 2022 May 19.
Hyperbilirubinemia is commonly seen in neonates. Though hyperbilirubinemia is typically asymptomatic, severe elevation of bilirubin levels can lead to acute bilirubin encephalopathy and progress to kernicterus spectrum disorder, a chronic condition characterized by hearing loss, extrapyramidal dysfunction, ophthalmoplegia, and enamel hypoplasia. Epidemiological data show that the implementation of universal pre-discharge bilirubin screening programs has reduced the rates of hyperbilirubinemia-associated complications. However, acute bilirubin encephalopathy and kernicterus spectrum disorder are still particularly common in low- and middle-income countries.
The understanding of the genetic and biochemical processes that increase the susceptibility of defined anatomical areas of the central nervous system to the deleterious effects of bilirubin may facilitate the development of effective treatments for acute bilirubin encephalopathy and kernicterus spectrum disorder. Scoring systems are available for the diagnosis and severity grading of these conditions. The treatment of hyperbilirubinemia in newborns relies on the use of phototherapy and exchange transfusion. However, novel therapeutic options including deep brain stimulation, brain-computer interface, and stem cell transplantation may alleviate the heavy disease burden associated with kernicterus spectrum disorder. Despite improved screening and treatment options, the prevalence of acute bilirubin encephalopathy and kernicterus spectrum disorder remains elevated in low- and middle-income countries. The continued presence and associated long-term disability of these conditions warrant further research to improve their prevention and management.
高胆红素血症在新生儿中很常见。虽然高胆红素血症通常没有症状，但胆红素水平的严重升高可导致急性胆红素脑病，并进展为核黄疸谱系障碍，这是一种以听力损失、锥体外系功能障碍、眼肌瘫痪和釉质发育不全为特征的慢性疾病。流行病学数据表明，普遍开展出院前胆红素筛查计划降低了与高胆红素血症相关并发症的发生率。然而，急性胆红素脑病和核黄疸谱系障碍在中低收入国家仍然特别常见。
对增加中枢神经系统特定解剖区域对胆红素有害影响易感性的遗传和生化过程的理解，可能有助于开发急性胆红素脑病和核黄疸谱系障碍的有效治疗方法。目前已有用于这些疾病的诊断和严重程度分级的评分系统。新生儿高胆红素血症的治疗依赖于光疗和换血。然而，包括深部脑刺激、脑机接口和干细胞移植在内的新型治疗选择可能减轻核黄疸谱系障碍相关的沉重疾病负担。尽管改善了筛查和治疗选择，但急性胆红素脑病和核黄疸谱系障碍在中低收入国家的患病率仍然很高。这些疾病的持续存在及其相关的长期残疾，需要进一步的研究来改善其预防和管理。
