Buyukasik Yahya, Akman Umit, Buyukasik Naciye S, Goker Hakan, Kilicarslan Alparslan, Shorbagi Ali I, Hascelik Gulsen, Haznedaroglu Ibrahim C
Department of Hematology, Hacettepe University School of Medicine, Ankara, Turkey.
Am J Med Sci. 2008 Feb;335(2):115-9. doi: 10.1097/MAJ.0b013e318142be0d.
The genetic polymorphism responsible from Gilbert's syndrome is not sufficient for the clinical phenotype to occur in many persons. Additional factors are believed to contribute in pathogenesis. Red cell mass may be such a factor.
We have retrospectively evaluated computer records of all liver function tests assayed between January 2005 and February 2006. The database was screened to find cases with unconjugated hyperbilirubinemia and normal liver enzymes and blood count values on simultaneous assays. The control group for comparison of surrogate markers of total red cell mass comprised of age- and gender-matched persons who had laboratory tests with completely normal results on the same day with the hyperbilirubinemic cases. Gilbert's syndrome cases were found with medical record assessment, and these cases and their control subjects were more strictly assessed. Three different control groups were established for Gilbert's syndrome cases, one of them including healthy blood donors and personnel.
In 48,516 otherwise normal laboratory test results, we have found that 491 male subjects and 323 female subjects with unconjugated hyperbilirubinemia had higher hemoglobin, hematocrit, and red blood cell values compared with age- and gender-matched control subjects (P < 0.001 for all comparisons). Twenty-six males who had been followed for Gilbert's syndrome also showed higher hemoglobin, hematocrit and red cell count values in comparison to all control groups. Mean red cell volume value did not differ between the hyperbilirubinemic persons and control groups.
Relatively increased red cell mass probably plays a role in the pathogenesis of Gilbert's syndrome.
导致吉尔伯特综合征的基因多态性并不足以使许多人出现临床表型。据信还有其他因素参与其发病机制。红细胞量可能就是这样一个因素。
我们回顾性评估了2005年1月至2006年2月间所有肝功能检测的计算机记录。筛查该数据库以找出同时检测时出现非结合性高胆红素血症且肝酶和血细胞计数正常的病例。用于比较总红细胞量替代标志物的对照组由年龄和性别匹配的人员组成,他们在与高胆红素血症病例同一天进行的实验室检测结果完全正常。通过病历评估找出吉尔伯特综合征病例,并对这些病例及其对照对象进行更严格的评估。为吉尔伯特综合征病例设立了三个不同的对照组,其中一个包括健康献血者和工作人员。
在48516份其他方面正常的实验室检测结果中,我们发现491名患有非结合性高胆红素血症的男性受试者和323名女性受试者的血红蛋白、血细胞比容和红细胞值高于年龄和性别匹配的对照对象(所有比较P<0.001)。26名接受吉尔伯特综合征随访的男性与所有对照组相比,血红蛋白、血细胞比容和红细胞计数也更高。高胆红素血症患者与对照组之间的平均红细胞体积值没有差异。
相对增加的红细胞量可能在吉尔伯特综合征的发病机制中起作用。