Jaundice Associated With Hypertrophic Pyloric Stenosis Is An Early Manifestation of Gilbert Disease

Abstract 40

Backgrounds/aims : Previous reports had suggested that jaundice associated with hypertrophic pyloric stenosis (HPS) was likely to be an early manifestation of Gilbert disease, a benign condition due to a partial deficiency of bilirubin glucuronosyltransferase(BGT) activity. Molecular studies have shown that Gilbert disease was due to a homozygous TA insertion within the promotor region of the BGT gene. Subject : A 3-week-old infant was operated on for HPS. He was moderately jaundiced(bilirubin serum concentration 135µmol/l, entirely unconjugated).Methods : Genomic DNA was extracted from peripheral leukocytes. The 5 exons (including the intron-exon junctions) and the promotor of the BGT gene were PCR amplified and directly sequenced. Results : The infant was homozygous for the TA insertion within the promoting area, whereas the 5 exons (including the splice junctions) were found to have a normal sequence. Conclusions : Jaundice associated with HPS is an early manifestation of Gilbert disease.

Author information

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Trioche, P., Bridoux, D., Chalas, J. et al. Jaundice Associated With Hypertrophic Pyloric Stenosis Is An Early Manifestation of Gilbert Disease. Pediatr Res 44, 425 (1998). https://doi.org/10.1203/00006450-199809000-00073

Download citation