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Demonstration of McCune-Albright mutations in the liver of children with high gammaGT progressive cholestasis.

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 from the fourth month of life with the classical café-au-lait spots following Blaschko's lines, while less classical café-au-lait spots were seen in the second patient at the age of 4 years. Bone lesions were seen in one patient at the age 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 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 cholestasis and chronic cholestasis of infancy, as a rare cause.

journal_name

J Hepatol

journal_title

Journal of hepatology

authors

Silva ES,Lumbroso S,Medina M,Gillerot Y,Sultan C,Sokal EM

doi

10.1016/s0168-8278(00)80202-0

subject

Has Abstract

pub_date

2000-01-01 00:00:00

pages

154-8

issue

1

eissn

0168-8278

issn

1600-0641

pii

S0168-8278(00)80202-0

journal_volume

32

pub_type

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