Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency
Journal
Journal of Pediatric Gastroenterology and Nutrition
Journal Volume
47
Journal Issue
2
Pages
187-192
Date Issued
2008
Author(s)
Chen H.-W.
Huang Y.-T.
Chiu P.-C.
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.
SDGs
Other Subjects
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
Type
journal article