3 岁男孩的胆道闪烁扫描足以诊断 Rotor 综合征吗？
Is Hepatobiliary Scintigraphy Sufficient to Diagnose Rotor Syndrome in a 3-Year-Old Boy?
机构信息
Third Department of Pediatrics, Attikon University Hospital, National and Kapodistrian University of Athens, Athens, Greece
Nuclear Medicine Department, Children's Hospital of Athens "Agia Sofia," Athens, Greece; and.
出版信息
J Nucl Med Technol. 2021 Jun;49(2):193-194. doi: 10.2967/jnmt.120.257618. Epub 2021 Mar 15.
Rotor syndrome (RS) is a benign, inherited, commonly misdiagnosed cause of conjugated hyperbilirubinemia whose identification prevents unnecessary invasive investigations. We present the case of a 3-y-old boy with phenotypic and laboratory findings of RS but negative genetic test results, whose diagnosis was confirmed by hepatobiliary scintigraphy.
转子综合征（RS）是一种良性、遗传性、常被误诊的结合胆红素升高的原因，如果能识别该病，则可避免不必要的有创检查。我们报告 1 例 3 岁男孩，其临床表现和实验室检查符合 RS，但基因检测结果阴性，肝胆闪烁显像证实了该病的诊断。
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