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吉尔伯特综合征
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Abstract:
吉尔伯特综合征(Gilbert syndrome, GS)是一种遗传性胆红素代谢性障碍疾病，属于一种良性疾病。在临床诊治过程中，该类患者常出现非结合胆红素(unconjugated bilirubin)轻度升高，并无任何伴随症状，其他肝脏功能指标也未见明显异常。GS在普通人群中发病率高达5%~10%，大量研究发现GS与心血管疾病、糖尿病、某些癌症、全因死亡率的降低有相关性，因此在此综合GS的诊断以提高临床对该病的认识。
Gilbert syndrome (GS) is a hereditary disorder of bilirubin metabolism, which is a benign disease. In the clinical diagnosis and treatment process, patients with GS often have mild elevation of unconjugated bilirubin without any accompanying symptoms, and other liver function indicators are not obviously abnormal. The incidence of GS in the general population is as high as 5%~10%, and a large number of studies have found that GS is related to cardiovascular diseases, diabetes, certain cancers, and a lower overall mortality rate, therefore, this paper summarizes the diagnosis of GS to improve clinical understanding of the disease.
| [1] | 王红燕. 小黄人变身记——Gilbert综合征[J]. 肝博士, 2022(6): 48. |
| [2] | 李艳华, 李永宇, 周文敬. 非结合胆红素明显升高的Gilbert综合征1例临床分析[J]. 医学理论与实践, 2018, 31(22): 3414. |
| [3] | Kamal, S., Abdelhakam, S., Ghoraba, D., Massoud, Y., Aziz, K.A., Hassan, H., et al. (2019) The Frequency, Clinical Course, and Health Related Quality of Life in Adults with Gilbert’s Syndrome: A Longitudinal Study. BMC Gastroenterology, 19, Article No. 22. https://doi.org/10.1186/s12876-019-0931-2 |
| [4] | Buyukasik, Y., Akman, U., Goker, H., Haznedaroglu, I.C., Shorbagi, A.I., Kilicarslan, A., et al. (2008) Evidence for Higher Red Blood Cell Mass in Persons with Unconjugated Hyperbilirubinemia and Gilbert’s Syndrome. The American Journal of the Medical Sciences, 335, 115-119. https://doi.org/10.1097/maj.0b013e318142be0d |
| [5] | Sarlak, H., Arslan, E., Cakar, M., Tanriseven, M., Ozenc, S., Akhan, M., et al. (2016) Relation between Unconjugated Bilirubin and RDW, Neutrophil to Lymphocyte Ratio, Platelet to Lymphocyte Ratio in Gilbert’s Syndrome. SpringerPlus, 5, Article No. 1392. https://doi.org/10.1186/s40064-016-3085-5 |
| [6] | Wallner, M., Bulmer, A.C., Mölzer, C., Müllner, E., Marculescu, R., Doberer, D., et al. (2013) Haem Catabolism: A Novel Modulator of Inflammation in gilbert’s Syndrome. European Journal of Clinical Investigation, 43, 912-919. https://doi.org/10.1111/eci.12120 |
| [7] | Cartei, G., Chisesi, T., Cazzavillan, M., et al. (1976) Red Bloodcell Survival and Hyperbilirubinaemia in the Gilbert’s Syndrome. Folia haematologica: Internationales Magazin für klinische und morphologische Blutforschung, 103, 93-100. |
| [8] | Powell, L.W., Hemingway, E., Billing, B.H. and Sherlock, S. (1967) Idiopathic Unconjugated Hyperbilirubinemia (Gilbert’s Syndrome). New England Journal of Medicine, 277, 1108-1112. https://doi.org/10.1056/nejm196711232772102 |
| [9] | 冯家立, 章莉莎. 259例Gilbert综合征UGT1A1基因检测分析[J]. 中西医结合肝病杂志, 2022, 32(12): 1127-1129. |
| [10] | Zhang, M., Li, W.N., Chen, G., Xu, X. and Qi, J.Y. (2021) [Analysis of Diagnostic Value of UGT1A1 Gene Detection in Gilbert Syndrome]. Chinese Journal of Hepatology, 29, 143-149. |
| [11] | Strassburg, C.P. (2009) Gilbert-Meulengracht’s Syndrome and Pharmacogenetics: Is Jaundice Just the Tip of the Iceberg? Drug Metabolism Reviews, 42, 168-181. https://doi.org/10.3109/03602530903209429 |
| [12] | Owens, D. and Sherlock, S. (1973) Diagnosis of Gilbert’s Syndrome: Role of Reduced Caloric Intake Test. BMJ, 3, 559-563. https://doi.org/10.1136/bmj.3.5880.559 |
| [13] | 杨学敏, 沈宝荣, 刘鹏园, 等. 抗结核药物致急性肝损伤和中性粒细胞减少[J]. 药物不良反应杂志, 2019, 21(5): 389-389. |
| [14] | Erdil, A., Kadayifci, A., Ates, Y., Bagci, S., Uygun, A. and Dagalp, K. (2001) Rifampicin Test in the Diagnosis of Gilbert’s Syndrome. International Journal of Clinical Practice, 55, 81-83. https://doi.org/10.1111/j.1742-1241.2001.tb10985.x |
| [15] | Thomsen, H.F., Hardt, F. and Juhl, E. (1981) Diagnosis of Gilbert’s Syndrome. Reliability of the Caloric Restriction and Phenobarbital Stimulation Tests. Scandinavian Journal of Gastroenterology, 16, 699-703. https://doi.org/10.3109/00365528109182033 |
| [16] | 曹敏玲, 池晓玲, 蒋俊民. 拨经疗法治疗Gilbert综合征1例[J]. 中西医结合肝病杂志, 2022, 32(2): 183-184. |
| [17] | Wagner, K., Wallner, M., Mölzer, C., Gazzin, S., Bulmer, A.C., Tiribelli, C., et al. (2015) Looking to the Horizon: The Role of Bilirubin in the Development and Prevention of Age-Related Chronic Diseases. Clinical Science, 129, 1-25. https://doi.org/10.1042/cs20140566 |
| [18] | Kawamura, K., Ishikawa, K., Wada, Y., Kimura, S., Matsumoto, H., Kohro, T., et al. (2005) Bilirubin from Heme Oxygenase-1 Attenuates Vascular Endothelial Activation and Dysfunction. Arteriosclerosis, Thrombosis, and Vascular Biology, 25, 155-160. https://doi.org/10.1161/01.atv.0000148405.18071.6a |
| [19] | Soares, M.P., Seldon, M.P., Gregoire, I.P., Vassilevskaia, T., Berberat, P.O., Yu, J., et al. (2004) Heme Oxygenase-1 Modulates the Expression of Adhesion Molecules Associated with Endothelial Cell Activation. The Journal of Immunology, 172, 3553-3563. https://doi.org/10.4049/jimmunol.172.6.3553 |
| [20] | Schwertner, H.A., Jackson, W.G. and Tolan, G. (1994) Association of Low Serum Concentration of Bilirubin with Increased Risk of Coronary Artery Disease. Clinical Chemistry, 40, 18-23. https://doi.org/10.1093/clinchem/40.1.18 |
| [21] | Barañano, D.E., Rao, M., Ferris, C.D. and Snyder, S.H. (2002) Biliverdin Reductase: A Major Physiologic Cytoprotectant. Proceedings of the National Academy of Sciences, 99, 16093-16098. https://doi.org/10.1073/pnas.252626999 |
| [22] | Hopkins, P.N., Wu, L.L., Hunt, S.C., James, B.C., Vincent, G.M. and Williams, R.R. (1996) Higher Serum Bilirubin Is Associated with Decreased Risk for Early Familial Coronary Artery Disease. Arteriosclerosis, Thrombosis, and Vascular Biology, 16, 250-255. https://doi.org/10.1161/01.atv.16.2.250 |
| [23] | Horsfall, L.J., Nazareth, I., Pereira, S.P. and Petersen, I. (2013) Gilbert’s Syndrome and the Risk of Death: A Population‐based Cohort Study. Journal of Gastroenterology and Hepatology, 28, 1643-1647. https://doi.org/10.1111/jgh.12279 |
| [24] | Wei, M., Schwertner, H.A., Gibbons, L.W., Zheng, T.Q. and Mitchell, T.L. (2000) The Inverse Association between Baseline Fasting Serum Bilirubin and Subsequent All-Cause Mortality in Men without Baseline Liver Dysfunctions (Abstract). Hepatology, 32, 426A. |
| [25] | Wei, M., Schwertner, H.A., Zheng, Q. and Blair, S.N. (2000) Fasting Serum Bilirubin Concentrations and the Risk of Subsequent Coronary Heart Disease Death in Men (Abstract). Hepatology, 32, 314A. |
| [26] | Horsfall, L.J., Burgess, S., Hall, I. and Nazareth, I. (2020) Genetically Raised Serum Bilirubin Levels and Lung Cancer: A Cohort Study and Mendelian Randomisation Using UK Biobank. Thorax, 75, 955-964. https://doi.org/10.1136/thoraxjnl-2020-214756 |
| [27] | Temme, E.H.M., Zhang, J., Schouten, E.G. and Kesteloot, H. (2001) Serum Bilirubin and 10-Year Mortalityrisk in a Belgian Population. Cancer Causes and Control, 12, 887-894. https://doi.org/10.1023/a:1013794407325 |
