Ismail Abdul Qader Tahir, Gandhi Anjum, El-Shimy Nagui
Paediatrics Department, Good Hope Hospital, Birmingham, West Midlands, UK.
BMJ Case Rep. 2011 Jul 28;2011:bcr0520114293. doi: 10.1136/bcr.05.2011.4293.
In this article the authors present a case of pathological neonatal jaundice resistant to phototherapy in a baby with a family history of Gilbert's syndrome and hereditary spherocytosis. Her presentation was ultimately explained with a diagnosis of both conditions, and required treatment with phenobarbitone. The authors discuss the mechanism by which Gilbert's syndrome results in hyperbilirubinaemia and its similarities with Crigler-Najjar syndrome. The presentation of hereditary spherocystosis in the neonatal period is also explored, as is the mechanism of exaggerated hyperbilirubinaemia when the two conditions co-exist.
在本文中,作者介绍了一名患有吉尔伯特综合征和遗传性球形红细胞增多症家族史的婴儿,其病理性新生儿黄疸对光疗耐药。最终通过对这两种疾病的诊断解释了她的症状表现,并需要使用苯巴比妥进行治疗。作者讨论了吉尔伯特综合征导致高胆红素血症的机制及其与克里格勒 - 纳贾尔综合征的相似之处。还探讨了遗传性球形红细胞增多症在新生儿期的表现,以及这两种疾病共存时高胆红素血症加重的机制。