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Please use this identifier to cite or link to this item: https://scholars.lib.ntu.edu.tw/handle/123456789/336349
Title: Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency
Authors: NI-CHUNG LEE
MEI-HWEI CHANG
HUEY-LING CHEN
YIN-HSIU CHIEN
Yen-Hsuan Ni
WUH-LIANG HWU
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
Issue Date: 2008
Journal Volume: 47
Journal Issue: 2
Start page/Pages: 187-192
Source: Journal of Pediatric Gastroenterology and Nutrition 
Abstract: 
OBJECTIVES: To identify facial and biochemical characteristics as early clinical features of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD). PATIENTS AND METHODS: 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. RESULTS: 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 alanine aminotransferase ratio of 2 or greater, a direct bilirubin total bilirubin ratio under 0.67, and a standard deviation score for ±-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. CONCLUSIONS: Our Chubby Index is an informative measurement of the facial characteristics of infants with NICCD. The chubby face features, along with an aspartate aminotransferase alanine aminotransferase ratio of 2 or greater, a direct bilirubin total bilirubin ratio under 0.67, and a standard deviation score for ±-fetoprotein of 4 or greater, may serve as useful clinical indicators for diagnosing NICCD early in infancy. ? 2008 by Lippincott Williams & Wilkins.
URI: http://www.scopus.com/inward/record.url?eid=2-s2.0-56049093028&partnerID=MN8TOARS
http://scholars.lib.ntu.edu.tw/handle/123456789/336349
DOI: 10.1097/MPG.0b013e318162d96d
Appears in Collections:醫學系

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