Original articleHepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants
Section snippets
Definition
In this study, idiopathic intrahepatic cholestasis of infancy was defined as intrahepatic cholestasis with patent extrahepatic biliary tract and adequate interlobular bile duct portal area ratio (>0.6). To fulfill the criteria, the patient must also have no combined infection, such as syphilis, herpes virus, enterovirus, toxoplasma, or rubella infection. The only allowed exception is cytomegalovirus (CMV) infection, which is highly prevalent in Taiwanese infants. The presence of CMV infection
Results
Hepatic steatosis was found in 10 of the 68 infants (14.7%) who were previously diagnosed with “idiopathic” intrahepatic cholestasis of infancy. As shown in Table I, the aspartate aminotransferase (AST), alanine aminotransferase (ALT), and alkaline phosphatase levels were lower in our 11 infants with hepatic steatosis than in the 58 infants without steatosis (P = .013, P <.001, P = .003, respectively). The CMV infection rate was similar between the two groups (steatosis vs non-steatotic group:
Discussion
The laboratory parameters in infants with idiopathic hepatic steatosis, non-steatotic intrahepatic cholestasis of infancy, or NICCD differ widely. Our infants with hepatic steatosis and the infants with NICCD from the literature have lower AST and ALT levels than the non-steatotic patients with idiopathic intrahepatic cholestasis of infancy. This can be explained by the histological findings that infants with NICCD usually have lower lobular activity than those with non-steatotic idiopathic
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2018, Practical Hepatic Pathology: A Diagnostic Approach: Second EditionMolecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency
2012, GeneCitation Excerpt :The protein encoded by SLC25A13, which has been designated as citrin, acts as a liver-type calcium-binding/stimulated aspartate–glutamate carrier that plays important roles in the metabolic pathways of aerobic glycolysis, gluconeogenesis, urea cycle, and synthesis of proteins and nucleotides (Kobayashi and Saheki, 2003; Palmieri et al., 2001; Saheki and Kobayashi, 2005; Saheki et al., 2004, 2006). SLC25A13 mutations lead to citrin deficiency (CD)(Kobayashi et al., 2012; Saheki et al., 2011), which has been well recognized as a worldwide panethnic disease entity (Ben-Shalom et al., 2002; Dimmock et al., 2009; Fiermonte et al., 2011; Ohura et al., 2007; Song et al., 2009a, 2011; Tabata et al., 2008; Tazawa et al., 2004; Takaya et al., 2005; Thong et al., 2010; Yeh et al., 2006) that encompasses different clinical phenotypes including adult-onset citrullinemia type II (CTLN2) (Komatsu et al., 2008; Saheki et al., 2002), neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)(Saheki and Kobayashi, 2002; Saheki et al., 2002; Yamaguchi et al., 2002), and failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), a post-NICCD state before CTLN2 onset which was proposed very recently (Kobayashi et al., 2012; Song et al., 2009b, 2011). SLC25A13 mutation analysis could provide reliable evidences for CD definitive analysis.
Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system
2012, Journal of PediatricsCitation Excerpt :With informed consent from the parents, these 20 patients were enrolled in this study to detect mutations and single-nucleotide polymorphisms (SNPs) in the SLC25A13 gene. Of them, 11 patients had already been tested by direct sequencing of the 7 exons containing the most frequently reported mutations.7 This study was approved by the institutional review board of the National Taiwan University Hospital.
Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: A clinical, genetic and transcriptional analysis
2012, GeneCitation Excerpt :In 2002, Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD, OMIM # 605814) was designated as a specific term standing for the CD phenotype during infancy (Saheki and Kobayashi, 2002; Saheki et al., 2002; Yamaguchi et al., 2002). In the past 10 years, more and more NICCD patients were diagnosed, not only in Japan (Kimura et al., 2010; Ohura et al., 2003,2007; Tabata et al., 2008; Takaya et al., 2005; Tamamori et al., 2002; Tazawa et al., 2004; Tokuhara et al., 2007), but also in other Asian countries or regions (Ben-Shalom et al., 2002; Fu et al., 2010, 2011; J.M. Ko et al., 2007; J.S. Ko et al., 2007; Lin et al., 2011; Song et al., 2009, 2011; Thong et al., 2010; Yeh et al., 2006), north America (Dimmock et al., 2007, 2009; Wong et al., 2008) and Europe (Fiermonte et al., 2011). NICCD has been recognized as a world-wide panethnic disease nowadays.
Neonatal Cholestasis
2012, Gastroenterology and Nutrition: Neonatology Questions and ControversiesNeonatal Cholestasis
2012, Gastroenterology and Nutrition