Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications
Autore:
Colombo, C; Okolicsanyi, L; Strazzabosco, M;
Indirizzi:
Univ Padua, Dept Med & Surg Sci, Med Clin 1, I-35100 Padua, Italy Univ Padua Padua Italy I-35100 urg Sci, Med Clin 1, I-35100 Padua, Italy Univ Sassari, Dept Paediat, I-07100 Sassari, Italy Univ Sassari Sassari Italy I-07100 Dept Paediat, I-07100 Sassari, Italy Univ Parma, Chair Gastroenterol, I-43100 Parma, Italy Univ Parma Parma Italy I-43100 Chair Gastroenterol, I-43100 Parma, Italy Azienda Osped Padova, Padua, Italy Azienda Osped Padova Padua ItalyAzienda Osped Padova, Padua, Italy
Titolo Testata:
DIGESTIVE AND LIVER DISEASE
fascicolo: 2, volume: 32, anno: 2000,
pagine: 152 - 159
SICI:
1590-8658(200003)32:2<152:AIFACC>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECURRENT INTRAHEPATIC CHOLESTASIS; GLUTAMYL-TRANSPEPTIDASE ACTIVITY; BILE-ACID METABOLISM; ALAGILLE-SYNDROME; BYLER-DISEASE; NEONATAL CHOLESTASIS; LIVER-DISEASE; MDR3 GENE; LOCUS; HETEROGENEITY;
Keywords:
genetic defect; molecular genetics;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
45
Recensione:
Indirizzi per estratti:
Indirizzo: Strazzabosco, M Univ Padua, Dept Med & Surg Sci, Med Clin 1, Via Giustiniani 2, I-35100 Padua, Italy Univ Padua Via Giustiniani 2 Padua Italy I-35100 a, Italy
Citazione:
C. Colombo et al., "Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications", DIG LIVER D, 32(2), 2000, pp. 152-159

Abstract

Recent progress in liver cell biology and molecular genetics revealed thata number of familial and congenital cholestatic disorders are caused by mutations in genes coding for hepatobiliary-transporter or for signalling proteins involved in morphogenesis. The status of the field is reviewed in thelight of its impact on current diagnostic and clinical practice. The heterogeneous progressive familial intrahepatic cholestasis can now be separatedinto different genetic diseases. FIC1-defective progressive familial intrahepatic cholestasis (previously Byler disease) is determined by mutations in the FIC1 gene, coding for P-type ATPases of unknown physiological function, while a second form (bile salt export pump defective progressive familial intrahepatic cholestasis) is caused by a defective function of the canalicular bile salt export pump. Furthermore, a group of progressive familial intrahepatic cholestasis patients with high serum gamma glutamyltranspeptidase have mutations in the gene (PGY3) coding for the MDR3 protein, a canalicular ATP-dependent phopshatidylcholine translocator. Recurrent intrahepaticcholestasis (previously benign recurrent cholestasis), is also linked to specific mutations in the FIC1 gene. Finally, in Alagille syndrome, mutations in the JAG1 gene cause deficiency Jagged 1, a ligand for Notch 1, a receptor determining cell fate during early embryogenesis. Diagnosis of Alagillesyndrome, a condition that should be suspected in all patients with unexplained cholestasis, will thus be confirmed by genetic analysis for mutationsof JAG1. In children with cholestasis and low serum bile acid levels, an inborn error of bile acid synthesis should be excluded by urinary bile acid analysis by means of fast atom bombardment-ionization mass-spectrometry. Incontrast, in children with cholestasis and high serum bile acid concentrations, a high serum gamma glutamyltranspeptidase value would indicate MDR3 deficiency, which should be excluded through biliary phospholipid determination and genetic analysis of PGY3 gene. Finally, in those children with cholestasis, high serum bile acids and low gamma glutamyltranspeptidase activity, analysis of mutation in FIC1 and bile salt export pump genes may lead tothe diagnosis of progressive familial intrahepatic cholestasis either frombile salt export pump or FIC1 deficiency.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 05:36:12