Mulzer Linda-Marie, Reutter Heiko, Jüngert Jörg, Knisely A S, Schmid Margit, Hoerning André, Morhart Patrick
Department of Pediatrics, University of Erlangen-Nürnberg, Erlangen, Germany.
Diagnostic and Research Institute of Pathology, Medical University of Graz, Graz, Austria.
Front Pediatr. 2023 Mar 16;11:1104530. doi: 10.3389/fped.2023.1104530. eCollection 2023.
Gestational alloimmune liver disease (GALD) is a rare neonatal disorder with high mortality and morbidity. The patients come to caregivers' attention aged a few hours or days. The disease manifests as acute liver failure with or without siderosis. The differential diagnosis of neonatal acute liver failure (NALF) is broad, including mainly immunologic, infectious, metabolic and toxic disorders. The most common cause, however, is GALD followed by herpes simplex virus (HSV) infection. The best suited pathophysiological paradigm of GALD is that of a maternofetal alloimmune disorder. State of the art treatment combines intravenously administered immunoglobulin (IVIG) with exchange transfusion (ET). We report an infant born at 35 + 2 weeks' gestation in whom GALD had a favorable course, of interest because premature birth in our patient may have exerted protective aspects and lessened morbidity in that intrauterine exposure to maternal complement-fixing antibodies was shortened. The diagnosis of GALD was challenging and difficult. We suggest a modified diagnostic algorithm combining clinical findings with histopathologic findings in liver and lip mucosa and, if available, on abdominal magnetic resonance imaging-study focusing on the liver, spleen, and pancreas. This diagnostic workup must be followed by ET and subsequent administration of IVIG without delay.
妊娠同种免疫性肝病（GALD）是一种罕见的新生儿疾病，死亡率和发病率都很高。患儿通常在出生后数小时或数天内引起护理人员的注意。该病表现为伴有或不伴有含铁血黄素沉着症的急性肝衰竭。新生儿急性肝衰竭（NALF）的鉴别诊断范围很广，主要包括免疫性、感染性、代谢性和中毒性疾病。然而，最常见的病因是GALD，其次是单纯疱疹病毒（HSV）感染。GALD最适合的病理生理模式是母胎同种免疫性疾病。目前最先进的治疗方法是将静脉注射免疫球蛋白（IVIG）与换血疗法（ET）相结合。我们报告了一名孕35 + 2周出生的婴儿，其GALD病程良好，值得关注的是，由于我们的患者早产，可能起到了保护作用，减少了发病率，因为子宫内接触母体补体结合抗体的时间缩短了。GALD的诊断具有挑战性且困难。我们建议采用一种改良的诊断算法，将临床发现与肝脏和唇黏膜的组织病理学发现相结合，如果可行，还可结合腹部磁共振成像检查，重点关注肝脏、脾脏和胰腺。这种诊断检查之后必须立即进行ET并随后给予IVIG。
