Chubby Face and the Biochemical Parameters for the Early Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
| Autor: | Mei-Hwei Chang, Pao-Chin Chiu, Wuh-Liang Hwu, Ni-Chung Lee, Hung-Wen Chen, Huey-Ling Chen, Yen-Hsuan Ni, Yin-Hsiu Chien, Yuan-Te Huang |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Pathology Bilirubin Taiwan Organic Anion Transporters Cholestasis Intrahepatic Mitochondrial Membrane Transport Proteins Gastroenterology Diagnosis Differential Mitochondrial Proteins chemistry.chemical_compound Asian People Liver Function Tests Cholestasis Biliary atresia Internal medicine Humans Medicine medicine.diagnostic_test business.industry Calcium-Binding Proteins Infant Newborn Case-control study Infant Membrane Transport Proteins Echogenicity medicine.disease Neonatal hepatitis chemistry Case-Control Studies Face Mutation Pediatrics Perinatology and Child Health Female alpha-Fetoproteins Liver function business Liver function tests Blood Chemical Analysis |
| Zdroj: | Journal of Pediatric Gastroenterology & Nutrition. 47:187-192 |
| ISSN: | 0277-2116 |
| Popis: | 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-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. 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-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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text