背景:在新生儿中,尽管预防抗D免疫球蛋白,但恒河猴D同种免疫很少见,而且往往无法解释。恒河猴D同种免疫可导致新生儿溶血病,伴有贫血和未结合的高胆红素血症。在过去的报道中,短暂性先天性高胰岛素血症已被描述为恒河猴D同种免疫的罕见并发症。我们的病例报告表明,恒河猴D同种免疫可导致严重的先天性高胰岛素血症的假性综合征。贫血,和结合型高胆红素血症,尽管正确施用抗D免疫球蛋白预防。
方法:我们报告了一名36岁的老人,ARhD阴性血型的高加索孕妇1,第1段母亲接受常规产前抗D免疫球蛋白预防。她的足月新生男孩患有严重的先天性高胰岛素血症,贫血,和缀合性高胆红素血症高达295µmol/L(参考<9),占总胆红素的64%。怀疑综合征性先天性高胰岛素血症。检查显示直接抗球蛋白试验呈阳性,最初解释为由不规则抗体引起;通过18F-DOPA正电子发射断层扫描/计算机断层扫描进行的弥漫性先天性高胰岛素血症;先天性高胰岛素血症的正常遗传分析;肝酶轻度升高;延迟,但通过Tc99m-肝胆亚氨基二乙酸闪烁显像显示胆汁排泄;肝活检显示胆汁淤积和轻度纤维化。产妇抗D滴度为产后第20天1:16,000。无法识别母亲血液中的Y染色体物质。这可能,然而,不排除晚期产期妊娠出血作为免疫原因。三人全外显子组测序没有更深入的致病遗传发现。该患儿在5.5个月后进入临床缓解期。
结论:我们的病例表明,恒河猴D同种免疫可能表现为假性综合征,伴有短暂性先天性高胰岛素血症,贫血,合并高胆红素血症的胆汁综合征,尽管预防了抗D免疫球蛋白,可能是晚期母胎出血。
BACKGROUND: In neonates, rhesus D alloimmunization despite anti-D immunoglobulin prophylaxis is rare and often unexplained. Rhesus D alloimmunization can lead to hemolytic disease of the newborn with anemia and unconjugated hyperbilirubinemia. In past reports, transient congenital hyperinsulinism has been described as a rare complication of rhesus D alloimmunization. Our case report illustrates that rhesus D alloimmunization can result in a pseudosyndrome with severe congenital hyperinsulinism, anemia, and conjugated hyperbilirubinemia, despite correctly administered anti-D immunoglobulin prophylaxis.
METHODS: We report of a 36-year-old, Caucasian gravida 1, para 1 mother with A RhD negative blood type who received routine antenatal anti-D immunoglobulin prophylaxis. Her full term newborn boy presented with severe congenital hyperinsulinism, anemia, and conjugated hyperbilirubinemia up to 295 µmol/L (ref. < 9), accounting for 64% of the total bilirubin. Syndromic congenital hyperinsulinism was suspected. Examinations showed a positive direct antiglobulin test, initially interpreted as caused by irregular antibodies; diffuse congenital hyperinsulinism by 18F-DOPA positron emission tomography/computed tomography scan; normal genetic analyses for congenital hyperinsulinism; mildly elevated liver enzymes; delayed, but present bile excretion by Tc99m-hepatobiliary iminodiacetic acid scintigraphy; and cholestasis and mild fibrosis by liver biopsy. The maternal anti-D titer was 1:16,000 day 20 postpartum. Y-chromosome material in the mother\'s blood could not be identified. This could, however, not exclude late intrapartum fetomaternal hemorrhage as the cause of immunization. No causative genetic findings were deetrmined by trio whole exome sequencing. The child went into clinical remission after 5.5 months.
CONCLUSIONS: Our case demonstrates that rhesus D alloimmunization may present as a pseudosyndrome with transient congenital hyperinsulinism, anemia, and inspissated bile syndrome with conjugated hyperbilirubinaemia, despite anti-D immunoglobulin prophylaxis, possibly due to late fetomaternal hemorrhage.