Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II

作者：Iijima Shigeo^*; Ohzeki Takehiko; Maruo Yoshihiro

来源：Yonsei Medical Journal, 2011, 52(2): 369-372.

DOI：10.3349/ymj.2011.52.2.369

• Hereditary spherocytosis
• unconjugated hyperbilirubinemia
• UDP-glucuronosyltransferase
• Crigler-Najjar syndrome
• splenectomy

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 11 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.

• 出版日期2011-3-1