Radlović Nedeljko, Leković Zoran, Mladenović Marija, Ristić Dragana, Radlović Vladimir, Lekić Vojislav, Vuletić Biljana, Djurdjević Jelena, Gajić Milan
Srp Arh Celok Lek. 2007 May-Jun;135(5-6):317-20. doi: 10.2298/sarh0706317r.
Gilbert's syndrome represents the most frequent hereditary disorder of bilirubin metabolism. It occurs in 2-7% of subjects in general population, and is manifested by mild unconjugated hyperbilirubinaemia of benign nature.
The study was conducted in order to analyse our experience related to the circumstances of disclosure, age at onset and sex distribution of Gilbert's syndrome in children.
The diagnosis of Gilbert's syndrome was based on the findings of mild unconjugated hyperbilirubinaemia in the absence of haemolysis and organic liver disease, as well as significant increase of bilirubin unconjugated fraction in serum after a 3-day hypocaloric diet (400 kcal/daily).
Of 58 subjects with Gilbert's syndrome, there were 40 (68.97%) boys and 18 (31.03%) girls, indicating a 2.22 fold higher incidence of boys than girls. The age at diagnosis of the disorder was similar in boys and girls, and was 12.2-18 (X =14.71 +/- 1.55) years for boys and 10.5-16.4 (X = 14.38 +/- 2.10) years for girls (p > 0.05). Except for 3 girls aged below 12 years, in all other patients the diagnosis was made after that age; in 20, between age 12 and 14 years and in 14, between age 14 and 16 years, while in 10 patents, it was made at age between 16 and 18 years. In 20 (34.48%) subjects, hyperbilirubinaemia was disclosed on routine paediatric examination, in 19 (32.76%) when differentiating the cause of recurrent or acute abdominal pain, in 17 (29.3%) during febrile condition and in 2 during insufficient caloric intake. The values of unconjugated bilirubinaemia, both before a hypocaloric test and after a 3-day energy deprivation, were higher in boys than girls, but this difference was statistically significant only after the 3-day hypocaloric diet in age group between 16 and 18 years (p = 0.038). Also, no significant difference was found in bilirubinaemia level between the different age groups either in boys or girls.
According to our findings, in children, Gilbert's syndrome is manifested only in puberty, and 2.22 times more often in boys than girls. It is most frequently revealed during a routine paediatric examination, as well as when investigating the cause of abdominal pain and fever. A significantly higher level of serum bilirubin in boys as related to girls is registered only after a hypocaloric diet in age group between 16 and 18 years.
吉尔伯特综合征是最常见的胆红素代谢遗传性疾病。在普通人群中,其发病率为2%-7%,表现为性质良性的轻度非结合胆红素血症。
本研究旨在分析我们在儿童吉尔伯特综合征的诊断情况、发病年龄及性别分布方面的经验。
吉尔伯特综合征的诊断基于以下结果:存在轻度非结合胆红素血症,且无溶血及器质性肝病,同时在进行3天低热量饮食(每日400千卡)后,血清中非结合胆红素部分显著增加。
在58例吉尔伯特综合征患者中,男孩40例(68.97%),女孩18例(31.03%),男孩发病率是女孩的2.22倍。男孩和女孩的疾病诊断年龄相似,男孩为12.2 - 18岁(X = 14.71 ± 1.55),女孩为10.5 - 16.4岁(X = 14.38 ± 2.10)(p > 0.05)。除3例12岁以下女孩外,其他所有患者均在该年龄之后确诊;20例在12至14岁之间确诊,14例在14至16岁之间确诊,10例在16至18岁之间确诊。20例(34.48%)患者的高胆红素血症在常规儿科检查时被发现,19例(32.76%)在鉴别反复或急性腹痛原因时被发现,17例(29.3%)在发热状态下被发现,2例在热量摄入不足时被发现。在低热量试验前及3天能量剥夺后,男孩的非结合胆红素血症值均高于女孩,但仅在16至18岁年龄组进行3天低热量饮食后,这种差异具有统计学意义(p = 0.038)。此外,男孩和女孩不同年龄组之间的胆红素血症水平均未发现显著差异。
根据我们的研究结果,在儿童中,吉尔伯特综合征仅在青春期出现,男孩发病率是女孩的2.22倍。它最常在常规儿科检查以及调查腹痛和发热原因时被发现。仅在16至18岁年龄组进行低热量饮食后,男孩血清胆红素水平与女孩相比显著更高。