PDF(Pubmed)
Abstract：
A term baby presented with cholestatic jaundice since birth. She was diagnosed as gestational alloimmune liver disease-neonatal haemochromatosis (GALD-NH) on evaluation. The baby received intravenous immunoglobulin (IVIG) and recovered gradually from the illness. She was also diagnosed with alpha thalassaemia during the course of evaluation, confirmed by genetic testing. NH is a very rare disorder that results in fetal loss or neonatal death due to liver failure. NH is now known to be a phenotypic expression of GALD. Worldwide, NH is seen in less than one in a million pregnancies. The mortality rate of GALD has traditionally been around 80% with almost all babies needing liver transplantation, with advent of maternal and neonatal IVIG treatment, this has reduced significantly. There is no reported case of GALD-NH treated successfully with IVIG from India. Here, we report an interesting case of GALD-NH with alpha thalassaemia.
摘要：
足月婴儿出生后出现胆汁淤积性黄疸。评估时，她被诊断为妊娠同种免疫性肝病-新生儿血色素沉着症（GALD-NH）。婴儿接受了静脉注射免疫球蛋白（IVIG），并逐渐康复。在评估过程中，她还被诊断出患有α地中海贫血，基因检测证实。NH是一种非常罕见的疾病，由于肝功能衰竭导致胎儿丢失或新生儿死亡。现在已知NH是GALD的表型表达。全球,在不到百万分之一的怀孕中可以看到NH。传统上，GALD的死亡率约为80％，几乎所有需要肝移植的婴儿，随着孕产妇和新生儿IVIG治疗的出现，这大大减少了。没有报道用印度的IVIG成功治疗GALD-NH的病例。这里,我们报道了一个有趣的GALD-NH伴α地中海贫血的病例。
