目的分析4例citrin缺陷所致新生儿肝内胆汁淤积症(NICCD)死亡病例的临床特征和诊治过程。方法对2005-2012年本医院内分泌科收治的4例NICCD死亡病例进行回顾性分析。结果 4例死亡病例平均就诊年龄63d;临床表现:皮肤黄染起病3例,大便浅黄色起病1例,肝脾肿大3例,浮肿3例,精神运动发育迟缓2例。实验室检查低血糖2例,血氨升高4例;凝血功能障碍4例。血浆氨基酸分析显示4例均有瓜氨酸等氨基酸升高。尿气相色谱质谱分析显示3例尿中有大量半乳糖醇。4例基因突变分别为Ⅰ/Ⅰ、Ⅰ/Ⅲ两种。3例接受治疗,其中2例低血糖病例治疗11d后血糖好转,但肝功能无明显改善,遂自动出院,另1例入院6d后死亡,1例自动出院后死亡。1例于失访11个月后再次入院时死亡,1例门诊随访13个月后因肺部感染再次入院。4例死亡直接原因:肺出血。结论 NICCD死亡病例起病急、症状重,可累及消化、神经和血液等多个系统,凝血功能障碍所致肺出血是其直接死因。基因检测对早期诊断有重要意义,但是不能提示预后。 Objective To analyze the clinical characteristics and diagnosis and treatment of 4 cases of neonatal intrahepatic cholestasis (NICCD) death caused by citrin deficiency. Methods A retrospective analysis of 4 NICCD deaths admitted to Department of Endocrinology in our hospital from 2005 to 2012 was retrospectively analyzed. Results The average age of death was 4 days. The clinical manifestations were as follows: 3 cases of skin yellow staining, 1 case of stool pale yellow, 3 cases of hepatosplenomegaly, 3 cases of edema and 2 cases of mental retardation. Laboratory hypoglycemia in 2 cases, elevated blood ammonia in 4 cases; coagulation disorders in 4 cases. Plasma amino acid analysis showed that four cases of citrulline and other amino acids were elevated. Urine gas chromatography mass spectrometry analysis showed that 3 cases had a large amount of galactitol in urine. Four cases of gene mutations were Ⅰ / Ⅰ, Ⅰ / Ⅲ two. Three patients were treated. Among them, two patients with hypoglycemia improved blood glucose 11d after treatment, but their liver function did not improve obviously. They were discharged automatically. Another patient died 6 days after admission and one patient died after being discharged from hospital. One patient died when he was admitted to hospital again after 11 months of missed follow-up. One patient was admitted to hospital again after 13 months of follow-up due to pulmonary infection. 4 cases of direct cause of death: pulmonary hemorrhage. Conclusions The NICCD death cases are acute onset, severe symptoms and may involve multiple systems such as digestion, nerves and blood. Pulmonary hemorrhage caused by coagulation dysfunction is the direct cause of death. Genetic testing of early diagnosis is important, but can not prompt the prognosis.