Lee Min Jae, Chang Yoon Hwan, Kang Seung Hwa, Mun Se Kwon, Kim Heyjin, Han Chul Ju, Kim Jin, Kang Hye Jin
Department of Internal Medicine, Korea Cancer Center Hospital, Korea Institute of Radiological and Medical Sciences, Seoul, Korea.
Korean J Gastroenterol. 2013 Mar 25;61(3):166-9. doi: 10.4166/kjg.2013.61.3.166.
We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones.
我们最近遇到了一例遗传性球形红细胞增多症与吉尔伯特综合征共存的病例。患者最初被诊断为吉尔伯特综合征并进行观察，但在随访期间发现了其他提示并发溶血的表现，如脾肿大和胆结石。因此，进行了进一步评估，包括外周血涂片、渗透脆性试验、自身溶血试验和红细胞膜蛋白试验，确诊存在遗传性球形红细胞增多症。采用结合酶尿苷二磷酸 - 葡糖醛酸基转移酶基因分型来确诊吉尔伯特综合征。由于这两种疾病的高患病率和相似症状，吉尔伯特综合征患者中的遗传性球形红细胞增多症可能被掩盖。回顾该病例及其他文献，应考虑这两种疾病共存的可能性，尤其是在伴有脾肿大和胆结石的非结合性高胆红素血症患者中。
