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Fig. 1 | Italian Journal of Pediatrics

Fig. 1

From: Cholestatic jaundice in infancy: struggling with many old and new phenotypes

Fig. 1

Schematization of the causes of neonatal cholestasis. Patients with Renal Cysts and Diabetes Syndrome (RCAD) may present a syndromic paucity of interlobular bile ducts with high GGT neonatal cholestasis possibly mimicking Alagille Syndrome (ALGS). A1ATD Alfa-1 Antitrypsin Deficiency, ALGS Alagille Syndrome, ARC Arthrogryposis, Renal Dysfunction and Cholestasis, BMYO5 Myosin V, CF Cystic Fibrosis, GAL Galactosemia, GALD Gestational Autoimmune Liver Disease (Neonatal Hemochromatosis), GGT Gamma-glutamyl transpeptidase, HFI Hereditary Fructose Intolerance, HFN1 hepatocyte nuclear factor 1 homeobox, NICCD Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency, NSC Neonatal Sclerosing Cholangitis, PFIC Progressive Familial Intrahepatic Cholestasis, RCAD Renal Cysts And Diabetes Syndrome, SLOS Smith-Lemli-Opitz Syndrome, TALDO Transaldolase Deficiency, TYR Tyrosinemia, TJP2 Tight Junction Protein2. ** TYR, GAL, HFI as well as GALD and some mitochondrial, peroxisomal and beta oxidation diseases may have a liver failure presentation

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