https://scholars.lib.ntu.edu.tw/handle/123456789/537043
Title: | Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency | Authors: | Chen H.-W. HUEY-LING CHEN YEN-HSUAN NI NI-CHUNG LEE YIN-HSIU CHIEN WUH-LIANG HWU Huang Y.-T. Chiu P.-C. MEI-HWEI CHANG |
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: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-56049093028&doi=10.1097%2fMPG.0b013e318162d96d&partnerID=40&md5=04f00266d7171541f6b426ace4863159 https://scholars.lib.ntu.edu.tw/handle/123456789/537043 |
ISSN: | 0277-2116 | DOI: | 10.1097/MPG.0b013e318162d96d | SDG/Keyword: | alanine aminotransferase; alpha fetoprotein; aspartate aminotransferase; bilirubin; bilirubin glucuronide; alpha fetoprotein; bilirubin; calcium binding protein; carrier protein; eriodictyol 7 o glucoside; mitochondrial protein; organic anion transporter; SLC25A13 protein, human; aminoacidemia; article; bile duct atresia; chemical parameters; citrin deficiency; clinical article; clinical feature; controlled study; early diagnosis; face profile; gene mutation; human; infancy; intrahepatic cholestasis; liver function; mutational analysis; newborn; newborn disease; newborn hepatitis; priority journal; protein deficiency; Asian; blood; blood analysis; case control study; differential diagnosis; face; female; genetics; infant; liver function test; male; methodology; mutation; pathology; Taiwan; alpha-Fetoproteins; Asian Continental Ancestry Group; Bilirubin; Blood Chemical Analysis; Calcium-Binding Proteins; Case-Control Studies; Cholestasis, Intrahepatic; Diagnosis, Differential; Face; Female; Humans; Infant; Infant, Newborn; Liver Function Tests; Male; Membrane Transport Proteins; Mitochondrial Proteins; Mutation; Organic Anion Transporters; Taiwan |
Appears in Collections: | 醫學系 |
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