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The role of UGT1A1*28 mutation in jaundiced infants with hypertrophic pyloric stenosis.

Pediatric Research 2005 November
Hypertrophic pyloric stenosis (HPS) may be accompanied by jaundice, a condition referred to as the icteropyloric syndrome (IPS). It has long been suspected that the etiology of IPS is an early manifestation of Gilbert's syndrome (GS). Clinical features common to both GS and IPS include jaundice precipitated by fasting and improved with feeding. Prevalence of jaundice in HPS is similar to that of clinically apparent GS in the general population. Discovery of a mutation in the promoter region of the bilirubin uridine diphosphate glucuronosyl transferase gene (UGT1A1*28) as the most common cause of GS has provided a tool to determine the role of GS in IPS. The aims of this study were to determine 1) the prevalence of IPS in a large group of infants with HPS, 2) whether disease severity contributed to the manifestation of IPS, and 3) whether GS played a role in IPS. Radioactive PCR and sequencing were used to determine the presence of UGT1A1*28 mutations. We determined a prevalence of IPS of 14.3% in HPS. Infants with IPS had significantly higher levels of alkalosis than infants with HPS alone. GS mutations were 4-fold higher in IPS (43.8%) than HPS (10.7%). In conclusion, the frequency of jaundice in HPS is similar to that of clinically apparent GS in the general population. Manifestation of IPS results from a more severe degree of metabolic disturbance and the presence of GS mutations.

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