Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
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DOI：
10.1007/s10545-007-0506-1
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发表时间：
2007-04-01
影响因子：
4.2
通讯作者：
Saheki, T.
中科院分区：
文献类型：
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作者：
Ohura, T.;Kobayashi, K.;Saheki, T.
我们通过对75例新生儿因柠檬素缺乏引起的肝内胆汁淤积症（NICCD）的症状、治疗和长期结果的回顾性分析，阐明了NICCD的临床特征。这些数据来自对负责患者的儿科医生的问卷调查。30例患者在1个月前因新生儿筛查阳性结果（高乳酸血症、高蛋氨酸血症和高苯丙氨酸血症）被转介到医院。其他45名筛查阴性的患者因黄疸或大便变色而被怀疑患有新生儿肝炎或胆道闭锁而转诊到医院。大多数筛查阴性的患者在4个月前就出现了，而且我没有茁壮成长。实验室数据显示血清胆汁酸浓度升高，低蛋白血症，低水平的维生素k依赖性凝血因子和高半乳糖血症。18例患者出现低血糖。血清氨基酸分析显示瓜氨酸和蛋氨酸浓度显著升高。大多数患者给予无乳糖和/或中链甘油三酯丰富配方和脂溶性维生素。除两名患者外，所有患者在12个月大时症状都消失了。这两名症状不明的患者患有进行性肝功能衰竭，并在一岁前接受了肝移植。另一名患者在16岁时出现瓜氨酸血症II型（CTLN2）。重要的是要认识到NICCD并不总是一种良性疾病。
We clarified the clinical features of NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency) by retrospective review of symptoms, management and long-term outcome of 75 patients. The data were generated from questionnaires to paediatricians in charge of the patients. Thirty of the patients were referred to hospitals before 1 month of age because of positive results in newborn screening (hyperoalactosaemia, hypermethioninaemia, and hyper-phenylalaninaemia). The other 45, the screen-negative patients, were referred to hospitals with suspected neonatal hepatitis or biliary atresia because of jaundice or discoloured stool. Most of the screen-negative patients presented before 4 months of age, and I I had failure to thrive. Laboratory data showed elevated serum bile acid concentrations, hypoproteinaemia, low levels of vitamin K-dependent coagulation factors and hypergalactosaemia. Hypoglycaemia was detected in 18 patients. Serum amino acid analyses showed significant elevation of citrulline and methionine concentrations. Most of the patients were given a lactose-free and/or medium-chain triglyceride-enriched formula and fat-soluble vitamins. Symptoms resolved in all but two of the patients by 12 months of age. The two patients with unresolved symptoms suffered from progressive liver failure and underwent liver transplantation before their first birthday. Another patient developed citrullinaemia type II (CTLN2) at age 16 years. It is important to recognize that NICCD is not always a benign condition.