Gilbert综合征(Gilbert syndrome,GS)是因尿苷二磷酸葡萄糖醛酸转移酶1家族成员A1(UDPglucuronosyltransferase family 1 member A1,UGT1A1)基因突变导致尿苷二磷酸葡萄糖醛酸转移酶(uridine diphosphate glucuronosyltransferase,UGT酶...Gilbert综合征(Gilbert syndrome,GS)是因尿苷二磷酸葡萄糖醛酸转移酶1家族成员A1(UDPglucuronosyltransferase family 1 member A1,UGT1A1)基因突变导致尿苷二磷酸葡萄糖醛酸转移酶(uridine diphosphate glucuronosyltransferase,UGT酶)活性降低、以慢性非结合性高胆红素血症为特征的遗传性疾病,患者典型临床表现为间歇性黄疸,转氨酶正常,确诊依赖UGT1A1基因检测[1-2]。遗传性球形红细胞增多症(hereditary spherocytosis,HS)是红细胞膜蛋白基因突变导致红细胞球形化并在脾脏破坏增加,进而引发的溶血性疾病,患者典型表现为贫血、黄疸和脾大,可有外周血球形红细胞增多、渗透脆性增加,基因检测可明确ANK1、SPTA1等突变[3]。两病共患时可因临床表现重叠发生误诊或漏诊。现对我单位收治的1例GS共患HS行腹腔镜下脾切除的患者诊治经过总结报道如下。展开更多
It is challenging to diagnose isolated hyperbilirubinemia with rare and complex etiologies under the constraints of traditional testing conditions.Herein,we present a rare case of coexisting Gilbert syndrome(GS)and er...It is challenging to diagnose isolated hyperbilirubinemia with rare and complex etiologies under the constraints of traditional testing conditions.Herein,we present a rare case of coexisting Gilbert syndrome(GS)and erythropoietic protoporphyria(EPP),which has not been previously documented.CASE SUMMARY We present a rare case of coexisting GS and EPP in a 23-year-old Chinese male with a long history of jaundice and recently found splenomegaly.Serial nonspecific hemolysis screening tests yielded inconsistent results,and investigations for common hemolytic etiologies were negative.However,Levitt’s carbon monoxide breath test,which measures erythrocyte lifespan(the gold-standard marker of hemolysis),demonstrated significant hemolysis,revealing a markedly shortened erythrocyte lifespan of 11 days(normal average 120 days).Genetic testing subsequently confirmed EPP with a homozygous ferrochelatase gene mutation and GS with a heterozygous uridine diphosphate glucuronosyl trans-ferase 1A1 gene mutation.CONCLUSION The rapid,non-invasive Levitt’s carbon monoxide breath test resolved the diagnostic challenge posed by a rare and complex cause of hyperbilirubinemia.展开更多
目的探讨腹腔镜经腹膜前疝修补术(TAPP)横断疝囊技术治疗老年GilbertⅡ、Ⅲ型疝的效果。方法回顾性分析126例老年GilbertⅡ、Ⅲ型疝患者的临床资料,根据术式分为疝囊横断组(n=62)与疝囊完全剥离组(n=64),比较2组患者手术时间、术中出血...目的探讨腹腔镜经腹膜前疝修补术(TAPP)横断疝囊技术治疗老年GilbertⅡ、Ⅲ型疝的效果。方法回顾性分析126例老年GilbertⅡ、Ⅲ型疝患者的临床资料,根据术式分为疝囊横断组(n=62)与疝囊完全剥离组(n=64),比较2组患者手术时间、术中出血量、术后住院时间及术后血肿、急性疼痛、慢性疼痛、尿潴留、切口感染、睾丸萎缩、疝复发情况。结果疝囊横断组手术时间显著短于完全剥离组(P<0.05);2组患者术后第1 d、第2 d及第7 d VAS评分比较差异无统计学意义(P>0.05),2组患者术后第7 d VAS评分与第1 d比较差异有统计学意义(P<0.05);2组患者术中出血量、术后住院时间及术后急性疼痛、慢性疼痛、尿潴留、切口感染、睾丸萎缩、疝复发情况比较无统计学意义(P>0.05)。结论在老年GilbertⅡ、Ⅲ型疝的TAPP术中,疝囊横断技术可有效缩短手术时间、降低术后血肿风险,具有临床推广价值。展开更多
Gilbert’s syndrome(GS)is a common hereditary condition characterized by mild increases in serum bilirubin levels due to inherited defects in bilirubin metabolism.This review,based on peer-reviewed articles spanning f...Gilbert’s syndrome(GS)is a common hereditary condition characterized by mild increases in serum bilirubin levels due to inherited defects in bilirubin metabolism.This review,based on peer-reviewed articles spanning from 1977 to January 2024 and sourced through the PubMed platform,provides an overview of current knowledge regarding GS.Early studies primarily focused on defining the clinical and genetic characteristics of the syndrome.More recent research has delved into the genetic mechanisms underlying the reduced expression of bilirubin UDP-glucuronosyltransferase,significantly enhancing our understanding of the pathogenesis of GS.Recent studies have also investigated clinical implications of GS,including its association with metabolic associated steatotic liver disease,cardiovascular disease,mental health and mortality risk,highlighting the complex interplay between genetic factors,bilirubin metabolism,and clinical outcomes.展开更多
文摘Gilbert综合征(Gilbert syndrome,GS)是因尿苷二磷酸葡萄糖醛酸转移酶1家族成员A1(UDPglucuronosyltransferase family 1 member A1,UGT1A1)基因突变导致尿苷二磷酸葡萄糖醛酸转移酶(uridine diphosphate glucuronosyltransferase,UGT酶)活性降低、以慢性非结合性高胆红素血症为特征的遗传性疾病,患者典型临床表现为间歇性黄疸,转氨酶正常,确诊依赖UGT1A1基因检测[1-2]。遗传性球形红细胞增多症(hereditary spherocytosis,HS)是红细胞膜蛋白基因突变导致红细胞球形化并在脾脏破坏增加,进而引发的溶血性疾病,患者典型表现为贫血、黄疸和脾大,可有外周血球形红细胞增多、渗透脆性增加,基因检测可明确ANK1、SPTA1等突变[3]。两病共患时可因临床表现重叠发生误诊或漏诊。现对我单位收治的1例GS共患HS行腹腔镜下脾切除的患者诊治经过总结报道如下。
文摘It is challenging to diagnose isolated hyperbilirubinemia with rare and complex etiologies under the constraints of traditional testing conditions.Herein,we present a rare case of coexisting Gilbert syndrome(GS)and erythropoietic protoporphyria(EPP),which has not been previously documented.CASE SUMMARY We present a rare case of coexisting GS and EPP in a 23-year-old Chinese male with a long history of jaundice and recently found splenomegaly.Serial nonspecific hemolysis screening tests yielded inconsistent results,and investigations for common hemolytic etiologies were negative.However,Levitt’s carbon monoxide breath test,which measures erythrocyte lifespan(the gold-standard marker of hemolysis),demonstrated significant hemolysis,revealing a markedly shortened erythrocyte lifespan of 11 days(normal average 120 days).Genetic testing subsequently confirmed EPP with a homozygous ferrochelatase gene mutation and GS with a heterozygous uridine diphosphate glucuronosyl trans-ferase 1A1 gene mutation.CONCLUSION The rapid,non-invasive Levitt’s carbon monoxide breath test resolved the diagnostic challenge posed by a rare and complex cause of hyperbilirubinemia.
文摘目的探讨腹腔镜经腹膜前疝修补术(TAPP)横断疝囊技术治疗老年GilbertⅡ、Ⅲ型疝的效果。方法回顾性分析126例老年GilbertⅡ、Ⅲ型疝患者的临床资料,根据术式分为疝囊横断组(n=62)与疝囊完全剥离组(n=64),比较2组患者手术时间、术中出血量、术后住院时间及术后血肿、急性疼痛、慢性疼痛、尿潴留、切口感染、睾丸萎缩、疝复发情况。结果疝囊横断组手术时间显著短于完全剥离组(P<0.05);2组患者术后第1 d、第2 d及第7 d VAS评分比较差异无统计学意义(P>0.05),2组患者术后第7 d VAS评分与第1 d比较差异有统计学意义(P<0.05);2组患者术中出血量、术后住院时间及术后急性疼痛、慢性疼痛、尿潴留、切口感染、睾丸萎缩、疝复发情况比较无统计学意义(P>0.05)。结论在老年GilbertⅡ、Ⅲ型疝的TAPP术中,疝囊横断技术可有效缩短手术时间、降低术后血肿风险,具有临床推广价值。
文摘Gilbert’s syndrome(GS)is a common hereditary condition characterized by mild increases in serum bilirubin levels due to inherited defects in bilirubin metabolism.This review,based on peer-reviewed articles spanning from 1977 to January 2024 and sourced through the PubMed platform,provides an overview of current knowledge regarding GS.Early studies primarily focused on defining the clinical and genetic characteristics of the syndrome.More recent research has delved into the genetic mechanisms underlying the reduced expression of bilirubin UDP-glucuronosyltransferase,significantly enhancing our understanding of the pathogenesis of GS.Recent studies have also investigated clinical implications of GS,including its association with metabolic associated steatotic liver disease,cardiovascular disease,mental health and mortality risk,highlighting the complex interplay between genetic factors,bilirubin metabolism,and clinical outcomes.
