Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin-Johnson syndrome in a Chinese gril: A case report
Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin-Johnson syndrome in a Chinese gril: A case report
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DOI：
10.12998/wjcc.v7.i20.3303
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发表时间：
2019-10-26
影响因子：
1.1
通讯作者：
Zhang, Li
中科院分区：
文献类型：
--
作者：
Li, Yuan;Li, Yang;Zhang, Li
背景遗传性球形红细胞增多症（HS）是一种由于红细胞膜缺陷而发生的溶血性贫血的遗传性疾病。杜宾-约翰逊综合征 (DJS) 通常会导致黄疸，是一种良性遗传性胆红素清除障碍，很少发生。 HS 和 DJS 同时出现的情况极为罕见。我们近期诊治了一例HS与DJS并发的病例。 病例概要 患者，21岁，女，因出生后黄疸严重、脾脏肿大、轻度贫血就诊于我科。我们最终通过下一代测序 (NGS) 确认了同时发生的 DJS 和 HS 的诊断。熊去氧胆酸联合苯巴比妥治疗成功地升高了血红蛋白并降低了总胆红素和直接胆红素。结论当怀疑遗传性疾病时，常规应用NGS可以有效地做出明确诊断。
BACKGROUNDHereditary spherocytosis (HS) is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects. Dubin-Johnson syndrome (DJS), which commonly results in jaundice, is a benign hereditary disorder of bilirubin clearance that occurs only rarely. The co-occurrence of HS and DJS is extremely rare. We recently diagnosed and treated a case of co-occurring HS and DJS.CASE SUMMARYA 21-year-old female patient presented to our department because of severe jaundice, severe splenomegaly, and mild anemia since birth. We eventually confirmed the diagnosis of co-occurring DJS and HS by next generation sequencing (NGS). The treatment of ursodeoxycholic acid in combination with phenobarbital successfully increased hemoglobin and reduced total bilirubin and direct bilirubin.CONCLUSIONThe routine application of NGS can efficiently render a definite diagnosis when inherited disorders are suspected.