Kurilovich S A, Nemtsova E G, Kruchinina M V, Maximov V N
Eksp Klin Gastroenterol. 2016(9):32-37.
The aim; to evaluate the clinical manifestations and data of instrumental methods in patients with Gilbert's syndrome and different genotype UGT1A1.
Clinical manifestations and results of instrumental methods were studies in 104 patients with Gilbert's syndrome (UGIlAl gene mutation rs8175347), including 75 with the homozygous variant (genotype 7TA7TA) and 29 - with heterozygous variant (genotypes 6TA7TA or 6TA*STA).
The most frequent clinical manifestation was asthenovegetative syndrome. The promoter of the appearance/intensification ofjaundice were physical activity, stress and viral infections. Homozygotes exhibit an earlier manifestation of the disease, higher rates of bilirubin (sometimes not only due to deconjugating), a greater variety of stigmas undifferentiated dysplasia of connective tissue, more frequent detection of biliary sludge or gallstones. The clinical observation of a family case of Gilbert's syndrome where the mother is a homozygote, and the son - heterozygotes on UGT1A1 mutation is presented, which shows the above differences associated with genotype.
Patients with asthenic constitution and the stigma dysplasia of connective tissue have to be examined by the presence of mutations rs8175347 gene UGT1A1. The carrier not only homozygous but with the heterozygous variant mutations may require changes in the interpretation of symptoms, lifestyle, medication, etc.
目的：评估吉尔伯特综合征患者及不同基因型UGT1A1的临床表现和仪器检查数据。
对104例吉尔伯特综合征（UGIlAl基因突变rs8175347）患者的临床表现和仪器检查结果进行研究，其中75例为纯合变异型（基因型7TA7TA），29例为杂合变异型（基因型6TA7TA或6TA*STA）。
最常见的临床表现为乏力性植物神经功能紊乱综合征。黄疸出现/加重的诱因是体力活动、应激和病毒感染。纯合子患者疾病表现更早，胆红素水平更高（有时不仅是由于结合胆红素解离），有更多未分化结缔组织发育异常的体征，更频繁检测到胆汁淤积或胆结石。文中呈现了一个吉尔伯特综合征家族病例的临床观察，母亲为纯合子，儿子为UGT1A1突变杂合子，显示出上述与基因型相关的差异。
对于有乏力体质和结缔组织发育异常体征的患者，必须检查UGT1A1基因rs8175347突变的存在情况。不仅是纯合子携带者，杂合变异型携带者可能也需要在症状解读、生活方式、用药等方面做出改变。
