目的 分析Citrin缺陷导致的新生儿肝内胆汁淤积症(NICCD)3种基因突变型(突变Ⅰ、Ⅲ、Ⅹ)患儿的临床表现、实验室检查特点及预后.方法 分析已确诊患儿的临床表现、常规实验室检查、血氨基酸谱和尿有机酸,并随访治疗14个月.结论 84例NICCD患儿以婴儿肝炎综合征起病79例,低血糖起病2例,肝脾肿大起病1例,水肿起病2例.平均就诊年龄(49±5)d.合并精神运动发育迟缓48例,低血糖53例,有瓜氨酸等氨基酸特异性升高43例,尿标本发现大量半乳糖醇51例.84例患儿基因突变类型为Ⅰ/Ⅰ56例,Ⅹ/Ⅹ 3例,Ⅰ/Ⅲ 6例,Ⅰ/Ⅹ 13例,Ⅲ/Ⅹ 6例.除3例自动出院外,81例患儿全部接受治疗,治疗3～6个月后低血糖好转,5～6个月后精神运动发育迟缓逐渐改善.出院后11例失访,其余70患儿随访2～23个月,平均(14±2)个月,健康状况良好.结论 85ldel4(突变Ⅰ)为中国人SLC25A13基因的热点突变.NICCD患儿的基因型与临床表型相关性不明显.婴儿肝炎综合征并低血糖及精神运动发育迟缓对本病有积极提示,且治疗后有明显好转.绝大多数NICCD患儿预后尚佳,但仍需长期随诊.%Objective To study the clinical manifestations, laboratory features and prognosis of 3 gene mutations ( mutation Ⅰ ,Ⅲ ,Ⅹ) in neonatal intrahepatic cholestasis caused by Citrin deficiency ( NICCD ). Methods Eighty -four patients with proven NICCD of SLC25A13 gene mutation were enrolled. The data of routine laboratory tests, blood a-mino acids spectrum and urine organic acids were collected. The 14 - month follow - up was carried out. Results Among the 84 patients, 79, 2, 1 and 2 cases presented infant hepatitis syndrome, hypoglycemia, hepatosplenomegaly and edema as onset symptom, respectively, with mean age of ( 49 ±5 ) days. Complicated mental retardation, hypoglycemia, citrul-line aggregation, and urine galactitol elevation were revealed in 48, 53 , 43 , and 51 cases, respectively. Ⅰ /Ⅰ , Ⅹ/Ⅹ, Ⅰ /Ⅲ Ⅰ /Ⅹ , and Ⅲ/Ⅹ mutations were found in 56, 3 , 6, 13 and 6 cases, respectively. Except for 3 self-discharge, the other 81 patients with NICCD were effectively treated. After discharge, 11 cases were lost to follow up. All other 70 cases were followed up to ( 14 ± 2 ) months ( 2 ~ 23 months ) with good health condition. Conclusion The 851del4 ( mutationⅠ) is the hot - spot mutation of SLC25Aj3 gene in Chinese NICCD patients. No correlation is found between the genotype and phenotype in NICCD. Hepatosplenomegaly accompanied with hypoglycemia and mental retardation, which can be reversed after proper treatment, are suggested to the diagnosis. Most NICCD patients have good prognosis, though long term follow - up is required.
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