Hee Jung Lee, Hee Seok Moon, Eaum Seok Lee, Seok Hyun Kim, Jae Kyu Sung, Byung Seok Lee, Hyun Yong Jeong, Heon Young Lee, Young Jae Eu
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引用次数: 12
摘要
我们描述了中度高胆红素血症的28岁男子谁遭受了胆结石和脾肿大，遗传性球形细胞增多症(HS)和吉尔伯特综合征(GS)合并疾病。由于在没有贫血迹象的情况下很难诊断HS，我们评估了UGT1A1基因的基因突变和红细胞膜蛋白的异常;前者是UGT1A1等位基因的杂合子，具有三个突变，后者是部分缺乏锚蛋白表达。这是首次报道HS和GS同时存在UGT1A1基因的三个杂合突变[T-3279G, A (TA)7TAA和G211A]。
A case of concomitant Gilbert's syndrome and hereditary spherocytosis.
We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert's syndrome (GS). Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression. This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene.
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