Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II.
10.3349/ymj.2011.52.2.369
- Author:
Shigeo IIJIMA
1
;
Takehiko OHZEKI
;
Yoshihiro MARUO
Author Information
1. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan. sige_pd@yahoo.co.jp
- Publication Type:Case Report
- Keywords:
Hereditary spherocytosis;
unconjugated hyperbilirubinemia;
UDP-glucuronosyltransferase;
Crigler-Najjar syndrome;
splenectomy
- MeSH:
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
- From:Yonsei Medical Journal
2011;52(2):369-372
- CountryRepublic of Korea
- Language:English
-
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.
