Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II.

Abstract

Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in patients with co-inheritance of GS and HS. We experienced an interesting case of HS showing persistent jaundice after splenectomy, and upon further evaluation, the 25-year-old female patient was found to have HS combined with UGT1A1 deficiency. Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y486D] + [Y486D] mutations, which suggests Crigler-Najjar syndrome type II rather than GS. Careful evaluation of inappropriately elevated bilirubin level compared with the degree of hemolysis is important, reflecting the therapeutic implication of splenectomy and cholecystectomy.

• Authors: Shigeo Iijima, Takehiko Ohzeki, Yoshihiro Maruo
• Journal: Yonsei medical journal (Yonsei Med J) Vol. 52 Issue 2 Pg. 369-72 (Mar 2011) ISSN: 1976-2437 [Electronic] Korea (South)
• PMID: 21319362 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glucuronosyltransferase

Topics

• Adult
• Crigler-Najjar Syndrome (genetics)
• Female
• Glucuronosyltransferase (deficiency, genetics)
• Heterozygote
• Homozygote
• Humans
• Jaundice (etiology, genetics)
• Mutation, Missense (genetics)
• Point Mutation (genetics)
• Spherocytosis, Hereditary (complications, genetics)
• Splenectomy (adverse effects)