Chen Hung-Wen, Chen Huey-Ling, Ni Yen-Hsuan, Lee Ni-Chung, Chien Yin-Hsiu, Hwu Wuh-Liang, Huang Yuan-Te, Chiu Pao-Chin, Chang Mei-Hwei
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
J Pediatr Gastroenterol Nutr. 2008 Aug;47(2):187-92. doi: 10.1097/MPG.0b013e318162d96d.
To identify facial and biochemical characteristics as early clinical features of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD).
Ten patients with diagnoses of NICCD by SLC25A13 mutation analysis in Taiwan were recruited. A "Chubby Index" was developed for objective measurement of their facial characteristics. Liver function profiles were analyzed and compared with data on neonatal hepatitis and biliary atresia.
Chubby face was observed in early infancy in all 5 patients whose serial photographs were taken. A significant difference in the Chubby Index was seen between NICCD infants and healthy infants (1.331 +/- 0.07 vs 1.068 +/- 0.059; P < 0.05). NICCD is characterized by an aspartate aminotransferase-to-alanine aminotransferase ratio of 2 or greater, a direct bilirubin-to-total bilirubin ratio under 0.67, and a standard deviation score for alpha-fetoprotein of 4 or greater, with respect to neonatal hepatitis and biliary atresia. Although chubby face, abnormal liver function profiles, and multiple amino acidemia gradually disappeared after age 1 year, an increase in hepatic echogenicity was observed in most patients in long-term follow-up.
Our Chubby Index is an informative measurement of the facial characteristics of infants with NICCD. The chubby face features, along with an aspartate aminotransferase-to-alanine aminotransferase ratio of 2 or greater, a direct bilirubin-to-total bilirubin ratio under 0.67, and a standard deviation score for alpha-fetoprotein of 4 or greater, may serve as useful clinical indicators for diagnosing NICCD early in infancy.
确定面部和生化特征作为因瓜氨酸缺乏所致新生儿肝内胆汁淤积症（NICCD）的早期临床特征。
招募了10名在台湾经SLC25A13突变分析确诊为NICCD的患者。制定了“圆润指数”以客观测量其面部特征。分析肝功能指标并与新生儿肝炎和胆道闭锁的数据进行比较。
在拍摄了系列照片的所有5名患者中，均在婴儿早期观察到圆脸。NICCD婴儿与健康婴儿的圆润指数存在显著差异（1.331±0.07对1.068±0.059；P<0.05）。相对于新生儿肝炎和胆道闭锁，NICCD的特征为天冬氨酸转氨酶与丙氨酸转氨酶之比≥2、直接胆红素与总胆红素之比<0.67、甲胎蛋白标准差评分≥4。尽管圆脸、肝功能异常和多种氨基酸血症在1岁后逐渐消失，但在长期随访中，大多数患者观察到肝脏回声增强。
我们的圆润指数是对NICCD婴儿面部特征的一项有用测量指标。圆脸特征，以及天冬氨酸转氨酶与丙氨酸转氨酶之比≥2、直接胆红素与总胆红素之比<0.67、甲胎蛋白标准差评分≥4，可作为在婴儿早期诊断NICCD的有用临床指标。
