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Titolo:
Demonstration of McCune-Albright mutations in the liver of children with high gamma GT progressive cholestasis
Autore:
Silva, ES; Lumbroso, S; Medina, M; Gillerot, Y; Sultan, C; Sokal, EM;
Indirizzi:
Hosp Criancas Maria Pia, Serv Pediat, Dept Paediat, P-4050 Porto, PortugalHosp Criancas Maria Pia Porto Portugal P-4050 at, P-4050 Porto, Portugal Hop Lapeyronie, Unite Biochim Endocrinienne Dev & Reprod, Montpellier, France Hop Lapeyronie Montpellier France nne Dev & Reprod, Montpellier, France Univ Catholique Louvain, Clin St Luc, Ctr Genet Med, B-1200 Brussels, Belgium Univ Catholique Louvain Brussels Belgium B-1200 B-1200 Brussels, Belgium Univ Catholique Louvain, Clin St Luc, Dept Pediat, B-1200 Brussels, Belgium Univ Catholique Louvain Brussels Belgium B-1200 B-1200 Brussels, Belgium
Titolo Testata:
JOURNAL OF HEPATOLOGY
fascicolo: 1, volume: 32, anno: 2000,
pagine: 154 - 158
SICI:
0168-8278(200001)32:1<154:DOMMIT>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL INTRAHEPATIC CHOLESTASIS; STIMULATORY G-PROTEIN; ACTIVATING MUTATIONS; ALPHA-SUBUNIT; IDENTIFICATION; THERAPY; LOCUS; G(S); BONE;
Keywords:
cafe-au-lait spots; McCune-Albright syndrome; mutation of arginine 201 of the alpha-Gs protein; neonatal cholestasis; polyostotic fibrous dysplasia;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Silva, ES Hosp Criancas Maria Pia, Serv Pediat, Dept Paediat, Rua Boavista827, P-4050 Porto, Portugal Hosp Criancas Maria Pia Rua Boavista 827 Porto Portugal P-4050
Citazione:
E.S. Silva et al., "Demonstration of McCune-Albright mutations in the liver of children with high gamma GT progressive cholestasis", J HEPATOL, 32(1), 2000, pp. 154-158

Abstract

Two patients presented with neonatal cholestasis and acholic stools as first manifestations of McCune-Albright syndrome. Both went through an extensive evaluation including an exploratory laparotomy with peroperative cholangiography which ruled out biliary atresia, One patient presented fi om the fourth month of life with the classical cafe-au-lait spots following Blaschko's lines, while less classical cafe-au-lait spots were seen in the second patient at the age of 4 years, Bone lesions were seen in one patient at theage of 2.5 years and in the other at the age of 4 years, Despite the severity of presentation, both patients cleared their jaundice within 6 months, but still had mild abnormalities of liver function tests. Both patients Mo showed an activating mutation of codon 201 in the gene encoding the alpha-subunit of the G-protein that stimulates adenylcyclase in liver tissue, suggesting that this metabolic defect could be responsible for the cholestatic syndrome. Similar mutations have been found in other affected tissues in patients with the McCune-Albright syndrome. We propose that McCune-Albright syndrome be included in the list for differential diagnosis of neonatal cholest asis and chronic cholestasis of infancy, as a rare cause.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/09/20 alle ore 23:23:19