Roos Mariano da Rocha Carolina, Rostirola Guedes Renata, Kieling Carlos Oscar, Rossato Adami Marina, Cerski Carlos Thadeu Schmidt, Gonçalves Vieira Sandra Maria
Medical School, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Hospital de Clínicas de Porto Alegre, Pediatric Gastroenterology Unit, Porto Alegre, RS, Brazil.
Case Rep Pediatr. 2017;2017:7432859. doi: 10.1155/2017/7432859. Epub 2017 Jan 30.
Neonatal liver failure (NLF) is a major cause of neonatal morbidity and mortality, presenting as acute liver failure and/or congenital cirrhosis. Many affected patients show antenatal signs of fetal injury. There are several causes of NLF and early diagnosis is mandatory to elucidate the etiology and determine a specific treatment or the best management strategy. Gestational alloimmune liver disease associated with neonatal hemochromatosis (GALD-NH) is a rare but potentially treatable cause of NLF. It should be considered in any neonate with fetal signs of disease and postnatal signs of liver failure with no other identifiable causes. GALD-NH is often diagnosed late and patients are therefore referred late to specialized centers, delaying treatment. This case highlights the consequences of late diagnosis and treatment of GALD-NH and emphasizes the importance of a high grade of suspicion of this disease in order to refer the patient to a specialized center soon enough to perform the appropriate treatment.
新生儿肝衰竭(NLF)是新生儿发病和死亡的主要原因,表现为急性肝衰竭和/或先天性肝硬化。许多受影响的患者表现出胎儿损伤的产前迹象。NLF有多种病因,早期诊断对于阐明病因和确定具体治疗方法或最佳管理策略至关重要。与新生儿血色素沉着症相关的妊娠同种免疫性肝病(GALD-NH)是NLF一种罕见但可治疗的病因。对于任何有胎儿疾病迹象和产后肝衰竭迹象且无其他可识别病因的新生儿,都应考虑该病。GALD-NH常常诊断较晚,因此患者转诊至专科中心也较晚,从而延误了治疗。本病例突出了GALD-NH诊断和治疗延迟的后果,并强调高度怀疑该病对于尽早将患者转诊至专科中心以进行适当治疗的重要性。