RESUMO
A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). We analyzed 16 patients with NICCD to clarify the clinical features of the disease. Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or biliary atresia, positive results from newborn screening, tyrosinemia, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia. Laboratory data showed elevated serum bile acid levels, hypoproteinemia, low levels of vitamin K-dependent coagulation factors, and hypergalactosemia. Hypercitrullinemia was detected in 11 out of 15 patients examined. Most of the patients were given a lactose-free and/or medium chain triglycerides-enriched formula and lipid-soluble vitamins. The prognosis of the 16 patients is going fairy well at present, but we should observe these patients carefully to see if they manifest any symptom of CTLN2 in the future.
Assuntos
Proteínas de Ligação ao Cálcio/deficiência , Colestase Intra-Hepática/genética , Colestase Intra-Hepática/patologia , Fígado/patologia , Proteínas de Membrana Transportadoras/genética , Proteínas Mitocondriais/genética , Transportadores de Ânions Orgânicos/deficiência , Aminoácidos/sangue , Anemia Hemolítica/complicações , Anemia Hemolítica/patologia , Ácidos e Sais Biliares/sangue , Atresia Biliar/complicações , Atresia Biliar/parasitologia , Fatores de Coagulação Sanguínea , Colestase Intra-Hepática/complicações , Colestase Intra-Hepática/dietoterapia , Citrulinemia/complicações , Citrulinemia/patologia , Análise Mutacional de DNA , Primers do DNA , Feminino , Alimentos Formulados , Galactose/sangue , Hepatite/complicações , Hepatite/patologia , Humanos , Hipoglicemia/complicações , Hipoglicemia/patologia , Hipoproteinemia/complicações , Hipoproteinemia/patologia , Lactente , Recém-Nascido , Masculino , Proteínas de Transporte da Membrana Mitocondrial , Tirosinemias/complicações , Tirosinemias/patologia , Vitaminas/uso terapêuticoRESUMO
Progressive lameness and leg pain were the predominant clinical signs in a 17-week-old male border collie presented for examination. On clinical investigation, extrahepatic cholestasis in association with rickets due to inadequate vitamin D resorption was diagnosed. The dog was treated parenterally with vitamin D and a cholecystoduodenostomy was performed. At 25 days postsurgery the lameness had resolved and bone structure was radiographically normal. However, at six weeks postsurgery, the dog's condition deteriorated rapidly and euthanasia was finally performed at eight weeks postsurgery. At postmortem examination, Toxocara canis nematodes were found to have invaded the biliary system via the anastomosis between the gallbladder and duodenum, causing biliary and hepatic toxocariasis. The cause of the primary extrahepatic cholestasis was atresia of the common bile duct at the hepatic end. The liver tissue showed microscopic lesions of chronic extrahepatic cholestasis as well as acute inflammation associated with the nematode invasion. There was no postmortem evidence of bone lesions. Extrahepatic biliary atresia is extremely rare in animals and has not been described before in dogs. In contrast, it represents the most common cause of congenital cholestasis in children, occurring in approximately one per 10,000 to 15,000 live births.
