Perrotta S, del Giudice E M, Carbone R, Servedio V, Schettini F, Nobili B, Iolascon A
Dipartimento di Pediatria, Seconda Università degli Studi di Napoli, Naples, Italy.
J Pediatr. 2000 Apr;136(4):556-9. doi: 10.1016/s0022-3476(00)90026-x.
The molecular basis for the considerable variation of serum bilirubin levels and the incidence of gallstone formation in patients with congenital dyserythropoietic anemia (CDA) type II are unknown. We show that the combined effect of an increased bilirubin load caused by dyserythropoiesis in CDA II and decreased bilirubin conjugation caused by reduced expression of uridine diphosphate glucuronosyl transferase (UGT1A) would increase the risk of hyperbilirubinemia (P <.005) and gallstone formation (chi(2): P <. 001). The rate of gallstone formation in patients with CDA II is 4. 75-fold the rate of patients without Gilbert's syndrome, and gallstone diagnosis occurs at a younger age (P < 0.01). These findings should be considered during the follow-up of patients with CDA II.
先天性红细胞生成异常性贫血（CDA）II型患者血清胆红素水平存在显著差异以及胆结石形成发生率的分子基础尚不清楚。我们发现，CDA II型中红细胞生成异常导致胆红素负荷增加，以及尿苷二磷酸葡萄糖醛酸基转移酶（UGT1A）表达降低导致胆红素结合减少，这两种情况共同作用会增加高胆红素血症风险（P <.005）和胆结石形成风险（卡方检验：P <.001）。CDA II型患者的胆结石形成率是无吉尔伯特综合征患者的4.75倍，且胆结石诊断出现的年龄更小（P < 0.01）。在CDA II型患者的随访过程中应考虑这些发现。
