RT Journal Article
SR Electronic
T1 Jaundice with hypertrophic pyloric stenosis as an early manifestation of Gilbert syndrome
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 301
OP 303
DO 10.1136/adc.81.4.301
VO 81
IS 4
A1 Pascale Trioche
A1 Jacqueline Chalas
A1 Jeanne Francoual
A1 Liliane Capel
A1 Albert Lindenbaum
A1 Michel Odièvre
A1 Philippe Labrune
YR 1999
UL http://adc.bmj.com/content/81/4/301.abstract
AB Jaundice associated with hypertrophic pyloric stenosis was recognised in three patients; previous reports have suggested that this is a possible early manifestation of Gilbert syndrome. Most patients with Gilbert syndrome are homozygous for a (TA)7TAA polymorphism in the gene promoter coding for bilirubin glucuronosyltransferase. Two of the reported patients were homozygous for the (TA)7TAA polymorphism whereas the third was heterozygous for the same polymorphism. Furthermore, no other factors contributing to jaundice in the three patients were found. These results suggest that jaundice associated with hypertrophic pyloric stenosis is due to molecular defects within the gene promoter.