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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