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目的:探讨Gilbert综合征合并骨髓增殖性肿瘤(MPN)患者的临床与基因突变特征。方法:采集患者及其儿子外周血样并提取DNA,进行UGT1A1基因全部外显子突变分析。结果:患者白细胞数及血小板数升高,轻度贫血,脾脏肿大,骨髓及其病理活检均提示增生极度活跃,巨核细胞增多,JAK2/V617F阳性;血生化检测显示重度黄疸,以间接胆红素升高为主;UGT1A1基因检测发现1号外显子存在插入突变,由(TA)_6TAA突变到(TA)7TAA,即由野生型UGT1A1*1突变到UGT1A1*28,并发现错义突变c.211G>A,UGT1A1*6杂合,导致葡萄糖醛酸转移酶活性降低;患者及其儿子在启动子及非编码区均存在多态性错义突变,患者儿子不发病。结论:该患者JAK2/V617F+,UGT1A1突变,MPN合并Gilbert综合征的临床表型为国内首次报道,有助于提高血液科医师对Gilbert综合征的认识,有助于黄疸的诊断与鉴别诊断,而基因检测为其确诊手段。
Objective: To investigate the clinical and gene mutation characteristics of Gilbert’s syndrome complicated with myeloproliferative neoplasm (MPN). Methods: Peripheral blood samples of patients and their sons were collected and DNA was extracted for all exon mutation analysis of UGT1A1 gene. Results: The number of patients with white blood cells and platelets increased, mild anemia, splenomegaly, bone marrow and pathological biopsy showed hyperproliferation is extremely active, increased megakaryocytes, JAK2 / V617F positive; blood biochemical tests showed severe jaundice, indirect gallbladder The mutation of UGT1A1 * 1 was mutated to UGT1A1 * 28 in wild type UGT1A1 * 1, and the missense mutation c was found. 211G> A, UGT1A1 * 6 heterozygous, resulting in decreased glucuronyl transferase activity; patients and their sons in the promoter and non-coding region there are polymorphic missense mutations in patients with son disease. Conclusion: The clinical phenotypes of JAK2 / V617F +, UGT1A1 mutation and MPN combined with Gilbert syndrome are the first reported in China, which will help to improve the understanding of hematologists on Gilbert’s syndrome and contribute to the diagnosis and differential diagnosis of jaundice Genetic testing for its diagnosis.