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BackgroundGilbert syndrome is a well-recognized condition causing unconjugated hyperbilirubinemia with otherwise normal transaminases and liver function tests.CaseA 21 year old male patient presented with recurrent episodes of jaundice over four years. The episodes were preceded by stressful conditions and intercurrent illnesses. All laboratory prameters were normal except an unconjugated hyperbilirubinemia. A diagnosis of Gilbert syndrome was made after careful clinical evaluation.ConclusionRecognizing Gilbert syndrome has important clinical implicaitions by avoiding uncessary and expensive workup of patients with jaundice. Mangement entails avoiding stressful conditions and prolonged fasting. 相似文献
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目的 总结Gilbert综合征的临床和病理特征.方法 对16例有肝活组织检查的Gilbert综合征患者的临床病理资料进行总结,并对其中2例进行基因检测. 结果 16例Gilbert综合征患者中,男13例,女3例,年龄14~40岁.间断黄疸、非结合性胆红素升高.肝活组织检查中央静脉周围肝细胞内可见脂褐素沉积.2例患者的基因分析,致病基因为第1外显子突变(Gly71Arg),为显性遗传. 结论 Gilbert综合征发病以青少年多见,并有间断出现非结合性胆红素升高.肝组织病理学检查有助于排除其他与非结合性胆红素升高有关的肝脏疾病的诊断.开展相关的基因检测有助于总结我国Gilbert综合征的遗传基因特点. 相似文献
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目的评价利福平试验对Gilbert综合征的诊断价值。方法收集已确诊的Gilbert综合征患者42例,分为Gilbert综合征组29例、Gilbert综合征合并慢性乙型肝炎病毒(HBV)感染组13例(均为长期反复或持续轻度间接高胆红素血症,但转氨酶始终正常),全部采用利福平试验。先在清晨空腹采血测定血清胆红素,然后口服利福平600mg,4h后再测血清胆红素。判定标准:口服利福平后,血清间接胆红素水平大于基线值2倍者定为强阳性;大于基线值50%为弱阳性;小于基线值50%或间接胆红素〈17.10μmol/L(1mg/d1)者为阴性。结果利福平试验前后血清间接胆红素水平有明显差异(P〈0.01),利福平试验诊断Gilbert综合征的阳性率为88.1%。对Gilbert综合征合并慢性HBV感染患者(HBV病毒携带者、非活动性HBsAg携带者),利福平试验未发现有明显的影响。结论利福平试验可用于诊断Gilbert综合征,对Gilbert综合征合并慢性HBV感染也有诊断价值。 相似文献
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Outcome assessment in haemophilia is important to assess results of prophylactic treatment. Recently, the Haemophilia Joint Health Score (HJHS) was developed to assess early joint damage in children with haemophilia. Thus, the aim of this study was to assess reliability and explore validity of the HJHS in teenagers and young adults with haemophilia. Twenty‐two patients with haemophilia (mean age 20.4, range 14–30, including 15 severe) were assessed by the HJHS1.0, Haemophilia Activities List (HAL), SF36 and self‐evaluation was performed using a Visual Analogue Scale (VAS) scale. A subset of 12 patients were assessed by three physiotherapists to establish interobserver reliability (intraclass correlation coefficient: ICC). Total HJHS1.0 scores were calculated without overall global gait. Validity was explored by the assessment of Pearson's correlation with all outcome parameters and recent Pettersson scores. Overall outcome was good, with median HJHS score of 5.5 of a maximum 144 (range 0–34), median patients' VAS of 96.5 and maximum scores for HAL and SF36 physical functioning for the majority of patients. Pettersson scores were low (median 3.5 of 78, N = 18). Interobserver reliability was good (ICC 0.84), with limits of agreement of ±7.2 points. ICC was unaffected by different score calculation methods. Exploration of validity in 22 patients showed weak correlations of HJHS scores with patients' VAS (0.33) and HAL (?0.40) and strong correlations with SF36‐PF (?0.66) and Pettersson scores (0.86). These results suggest that interobserver reliability of the HJHS1.0 in teenagers and young adults with limited joint damage is excellent. Preliminary data on validity were similar or better than those in children. 相似文献
37.
Nina Sneitz Conny T. Bakker Robert J. de Knegt Dicky J.J. Halley Moshe Finel Piter J. Bosma 《Human mutation》2010,31(1):52-59
Crigler‐Najjar syndrome (CN), caused by deficiency of UGT isoform 1A1 (UGT1A1), is characterized by severe unconjugated hyperbilirubinemia. In this study we have analyzed 19 CN patients diagnosed in The Netherlands (18) and in Belgium (1), and have identified 14 different UGT1A1 mutations, four of which are novel. Two mutations were present in several unrelated patients, suggesting the presence of two founder effects in The Netherlands. In addition, we show linkage of the UGT1A1??28 promoter polymorphism (rs5719145insTA) to three structural mutations. Functional studies of partial active UGT1A1 mutants are limited. Therefore, we performed in vitro studies to determine the functional activity of seven missense mutants identified in this study and of three reported previously. In addition to bilirubin, we also determined their activity toward eight other UGT1A1 substrates. We demonstrate that five mutants have residual activity that, depending on the substrate, varies from not detectable to 94% of wild‐type UGT1A1 activity. The identification of four novel pathogenic mutations and the analysis of residual activity of 10 UGT1A1 missense mutants are useful for clinical diagnosis, and provides new insights in enzyme activity, whereas the identification of two founder mutations will speed up genetic counseling for newly identified CN patients in The Netherlands. Hum Mutat 30:1–8, 2009. © 2009 Wiley‐Liss, Inc. 相似文献
38.
目的总结三位一体补片无张力疝修补手术治疗腹股沟疝的临床应用。方法分析2003年8月至2007年8月行无张力疝修补手术治疗的56例腹股沟疝。观察手术效果,手术时间、术后并发症、住院天数及复发率。结果本组56例腹股沟疝全部治愈。手术平均时间45min。全部采用持续性硬脊膜外麻醉,12例采用术后镇痛泵,术后伴轻微切口疼痛9例,伴切口内异物感2例,术后发生阴囊积液2例,2例术后切口稍微红肿,住院平均时间7d,术后随访6个月至2年,未见疝复发及切口感染。结论利用三位一体疝修补片进行无张力疝修补术是一种对人体生理功能影响小、术后恢复块、并发症少、治疗效果好的珲想术式。 相似文献
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K.Y. Fertrin M.S. Gonçalves S.T.O. Saad F.F. Costa 《American journal of medical genetics. Part A》2002,108(2):117-119
A polymorphism in the promoter region of the UDP‐glucuronosyltransferase 1 (UGT1A) gene is associated with Gilbert syndrome (GS), a benign form of mild unconjugated hyperbilirubinemia. We genotyped 157 individuals from Brazil, comprising 71 Caucasians, 54 African‐derived subjects, and 32 Parakanã Indians. Frequencies of the alelle (TA)7 associated with GS found in this study were 0.324, 0.407, and 0.328, respectively. The genotype frequencies differed significantly between Caucasians and African‐derived individuals. The high frequencies of (TA)7 polymorphism among the three groups confirm previous data that this polymorphism is very ancient and appears to be distributed throughout the world. © 2002 Wiley‐Liss, Inc. 相似文献