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.
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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