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新生儿伴α-地中海贫血的妊娠同种免疫性肝疾病。

Gestational alloimmune liver disease with alpha thalassaemia in a neonate.

机构信息

Neonatology, All India Institute of Medical Sciences, Nagpur, Maharashtra, India

Neonatology, All India Institute of Medical Sciences, Nagpur, Maharashtra, India.

出版信息

BMJ Case Rep. 2024 Mar 21;17(3):e257950. doi: 10.1136/bcr-2023-257950.

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

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。

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本文引用的文献

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Neonatal hemochromatosis.新生儿血色沉着症
J Clin Exp Hepatol. 2013 Dec;3(4):313-20. doi: 10.1016/j.jceh.2013.10.004. Epub 2013 Nov 27.

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