摘要
目的探讨妊娠同族免疫性肝病-新生儿血色病(GALD-NH)的临床特点,提高对该疾病的认识,为新生儿肝功能衰竭提供鉴别诊断思路。方法新生儿重症监护室(NICU)收治的1例早产儿,生后持续血小板减少、凝血功能障碍、低蛋白血症,伴胆汁淤积、腹水。新生儿科联合医学影像科、口腔科、超声诊断科多学科讨论,制定进一步诊疗方案。结果患儿生后早期出现肝功能衰竭,经多学科讨论,考虑GALD-NH可能。完善口腔黏膜活检,未发现阳性结果。腹部(肝脾、胰腺)MRI显示肝、脾T2WI弥漫性信号减低。肝穿刺病理显示肝细胞局灶性颗粒样铁沉积,明确诊断为GALD-NH。结论新生儿肝功能衰竭除需考虑感染性肝病、胆道系统阻塞性肝病、遗传性代谢性疾病外,还需考虑妊娠同族免疫性肝病。
Objective To investigate the clinical features of gestational alloimmune liver disease-neonatal hemochromatosis(GALD-NH)and to provide differential diagnosis of neonatal liver failure.Method A preterm infant admitted in neonatal intensive care unit shortly after birth.He presented with persistent thrombocytopenia,severe coagulation disorder,hypoproteinemia,cholestasis and ascites.Specialists from Department of Radiology,Ultrasonography,and Stomatology were invited to discuss the case.The diagnosis and treatment were adjusted according to the result of discussion.Results The case was characterized by acute liver failure in the early life.After multi-disciplinary treatment,GALD-NH was considered as the most likely cause of liver failure.Although oral mucosa biopsy was negative,abdominal(liver,spleen,pancreas)MRI showed liver and spleen had hypointense on T2WI.Liver biopsy showed that pathologic siderosis in hepatocytes.The patient finally diagnosed as GALD-NH.Conclusion When neonate with liver failure,neonatal hemochromatosis should be considered in addition to infectious liver disease,obstructive liver disease and genetic metabolic disease.
作者
周琳
刘成博
刘明
朱云开
陆永健
张拥军
夏红萍
ZHOU Lin;LIU Chengbo;LIU Ming;ZHU Yunkai;LU Yongjian;ZHANG Yongjun;XIA Hongping(Department of Neonatology,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China;Department of Radiology,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China;Department of Ultrasonography,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China;Department of Stomatology,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2024年第2期151-156,共6页
Journal of Clinical Pediatrics
