Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia.
We experienced a case of a 19-year-old man with Gilbert syndrome with concomitant hereditary spherocytosis. The patient presented with moderate unconjugated hyperbilirubinemia, and inherited etiology was strongly suspected. The diagnosis of Gilbert syndrome was confirmed by the genetic analysis of the UGT1A1 gene, demonstrating UGT1A1*28 and compound heterozygote UGT1A1*6. In addition, since the laboratory findings and imaging studies revealed lysemia as well as gallstone and splenomegaly, a diagnosis of hereditary spherocytosis was made as a comorbidity. Both Gilbert syndrome and hereditary spherocytosis are hereditary diseases with a high frequency, and the hyperbilirubinemia may be exacerbated when these two diseases are concomitant.
Department of Medicine, Teikyo University School of Medicine, Japan.
Mitsuhiko
M
Aiso
Minami
M
Yagi
Atsushi
A
Tanaka
Kotaro
K
Miura
Ryo
R
Miura
Toshihiko
T
Arizumi
Yoriyuki
Y
Takamori
Sayuri
S
Nakahara
Yoshihiro
Y
Maruo
Hajime
H
Takikawa
D042882:Gallstones / Q000150:complications; D005878:Gilbert Disease / Q000150:complications* / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D006932:Hyperbilirubinemia / Q000150:complications*; D008297:Male; D013103:Spherocytosis, Hereditary / Q000150:complications*; D013163:Splenomegaly / Q000150:complications; D055815:Young Adult; D000099148:UGT1A1 Enzyme
D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme