Neonatology, All India Institute of Medical Sciences, Nagpur, Maharashtra, India
Neonatology, All India Institute of Medical Sciences, Nagpur, Maharashtra, India.
BMJ Case Rep. 2024 Mar 21;17(3):e257950. doi: 10.1136/bcr-2023-257950.
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.
一名足月出生的婴儿，自出生以来即出现胆汁淤积性黄疸。经评估，该婴儿被诊断为妊娠期同种免疫性肝疾病-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）治疗，病情逐渐恢复。在评估过程中，该婴儿还被诊断出患有α地中海贫血，这通过基因检测得到了证实。NH 是一种非常罕见的疾病，由于肝功能衰竭，可导致胎儿流产或新生儿死亡。现在已知 NH 是 GALD 的一种表型表现。在全球范围内，NH 在每百万例妊娠中不到一例。传统上，GALD 的死亡率约为 80%，几乎所有婴儿都需要进行肝移植，随着母亲和新生儿 IVIG 治疗的出现，这一比例显著降低。据报道，来自印度的 GALD-NH 病例经 IVIG 治疗成功的案例尚不多见。在这里，我们报告了一例有趣的 GALD-NH 合并α地中海贫血病例。
