成人Alagille综合征1例报告

<正>1病例资料患者女性,22岁,因体检发现肝功能异常3年,于2018年8月8日以"肝功能异常"收入本院。患者2015年于当地医院体检发现ALT增高,服用保肝药(不详)后好转。2018年8月7日于本院体检再次发现肝功能异常:ALT 173 U/L,AST 117U/L,ALP 374 U/L,GGT 1474 U/L,尿酸417μmol/L,TG 5. 11mmol/L(表1);甲、乙、丙、丁、戊型肝炎标志物均阴性;肝脏彩超示:非均匀性脂肪肝。入院症状:乏力,纳可,夜寐安,二便     

Alagille综合征的临床及病理特征分析

目的 分析Alagille综合征(Alagille syndrome, ALGS)患者的临床特征、实验室指标、肝脏组织学、基因突变结果及预后特点。方法 回顾性分析2016年1月至2022年2月于首都医科大学附属北京友谊医院明确诊断为ALGS患者27例,收集患者临床特征、实验室指标、病理组织学、基因测序结果。结果 临床特征分析,生长发育迟缓16例(59.3%)、ALGS特殊面容8例(29.6%)、心血管受累16例(59.3%),蝴蝶椎骨10例(37.0%);肾脏受累8例(29.6%),角膜后胚胎环1例(3.7%);所有患者均有胆汁淤积,脾大23例(85.2%),食管胃底静脉曲张8例(29.6%),腹腔积液10例(37.0%),肝脏占位3例(11.1%)。病理特点分析,胆管消失16例(84.2%),汇管区炎症16例(84.2%),界面炎6例(31.6%),细胆管反应6例(31.6%),胆汁淤积12例(63.2%),胆盐淤积5例(26.3%);所有患者均存在不同程度的肝纤维化,其中肝硬化8例(42.1%)。基因检测分析,所有患者均为JAG1基因突变,其中1例合并NOTCH2基因突变,15例(...     

JAG1基因突变Alagille综合征1例报告并文献复习

Alagille综合征是一种累及多系统的常染色体显性遗传性疾病。该综合征在1969年由Alagille等首次报道,并在1975年得到进一步阐述。Alagille综合征涉及的脏器包括肝脏、心脏、骨骼、眼睛和颜面等,国外报道该病的发病率约为1／70000。     

普伐他汀治疗肾病综合征高脂血症35例临床分析

目的：总结普伐他汀治疗肾病综合征高脂血症的疗效。方法：对35例伴肮脂血症的肾病综合征患者在用强的松、利尿、降压、抗凝治疗的同时，每晚给予普伐他汀10mg，连续1个月。其间停用其他降脂药。治疗前后测定病人血清CH、TG、LDL－C和GDL－C。结果：治疗1个月后血CH、TG、LDL－C均显著下降（P＜0．01），HDL－C则升高（P＜0．05）。未见有不良反应.结论：普伐他汀有显著降血脂作用，特别适用于治疗高胆固醇血症及LDL－C升高者。     

步长脑心通治疗脑动脉硬化和高脂血症临床观察

2003年6月～2006年6月,我们采用步长脑心通胶囊治疗脑动脉硬化和高脂血症患者69例,疗效满意。现报告如下。 临床资料：本文脑动脉硬化和高脂血症患者106例．入选标准：①头晕、头胀、头痛、疲倦、嗜睡、健忘等症状;②体征轻重不一,轻者无明显体征,重者眼睑部有黄色瘤等;     

血脂康治疗肾病综合征高脂血症的临床观察

目的 观察血脂康对肾病综合征高脂血症患者的临床疗效。方法 选择肾病综合征合并高脂血症患者50例,分为对照组20例,采用常规治疗;治疗组30例,在常规治疗基础上加用血脂康每天1．2g,服药前及服药8周后测定血脂、肝肾功能及尿蛋白等指标。结果 治疗组在服用血脂康8周后血清总胆固醇（TC）、低密度脂蛋白-胆固醇（LDL-C）和动脉硬化指数（P〈0．01）以及甘油三酯（TG）和载脂蛋白B（ApoB）显著降低（P〈0．05）;高密度脂蛋白-胆固醇（HDL-C）、载脂蛋白Al（ApoAl）和载脂蛋白E（ApoE）增加（P〈0．05）。同时,尿蛋白显著减少,血浆白蛋白升高,肝肾功能和肌酸激酶无明显变化。结论 血脂康能有效改善肾病综合征的各项血脂指标,使尿蛋白减少血浆白蛋白升高,而且使用方便、安全。     

普伐他汀治疗肾病综合征高脂血症35例临床分析

目的总结普伐他汀治疗肾病综合征高脂血症的疗效.方法对35例伴有高脂血症的肾病综合征患者在用强的松、利尿、降压、抗凝治疗的同时,每晚给予普伐他汀10mg,连续1个月.其间停用其他降脂药.治疗前后测定病人血清CH、TG、LDL-C和GDL-C.结果治疗1个月后血CH、TG、LDL-C均显著下降(P＜0.01),HDL-C则升高(P＜0.05).未见有不良反应.结论普伐他汀有显著降血脂作用,特别适用于治疗高胆固醇血症及LDL-C升高者.     

肾病综合征高脂血症发病机制与治疗新进展

高脂血症是肾病综合征患者的重要表现之一，它以血清中胆固醇、甘油三酯、极低密度脂蛋白(VLDL)、低密度脂蛋白水平(LDL)升高为特征。由于VLDL含有丰富的甘油三酯(55％)，LDL含有丰富的胆固醇(48％)，故这两种脂蛋白的代谢异常直接影响血中甘油三酯和胆固醇的水平。随着对LDL和血管硬化间关系的进一步了解，许多研究均集中     

A case of Takayasu disease with findings of incomplete Alagille syndrome

A 16-year-old girl being followed up for Takayasu arteritis for the last 3 years was also found to have Alagille syndrome upon findings of atypical facies, posterior embryotoxon, high-pitched voice, osteopenia and hypogonadism. This case might imply a possible relationship between Takayasu arteritis and Alagille syndrome.     

Outcome of liver disease in children with Alagille syndrome: a study of 163 patients

BACKGROUND AND AIMS: Various opinions have been expressed as to the long term prognosis of liver disease associated with Alagille syndrome (AGS). PATIENTS AND METHODS: We reviewed the outcome of 163 children with AGS and liver involvement, investigated from 1960 to 2000, the end point of the study (median age 10 years (range 2 months to 44 years)) being death, liver transplantation, or the last visit. RESULTS: At the study end point, of the 132 patients who presented with neonatal cholestatic jaundice, 102 remained jaundiced, 112 had poorly controlled pruritus, and 40 had xanthomas; cirrhosis was found in 35/76 livers, varices in 25/71 patients, and liver transplantation had been carried out in 44 patients (33%). Forty eight patients died, 17 related to complications of liver disease. Of 31 patients who did not present with neonatal cholestatic jaundice, five were jaundiced at the study end point, 17 had well controlled pruritus, and none had xanthomas; cirrhosis was found in 6/18 patients, varices in 4/11, and none underwent liver transplantation. Nine patients died, two of liver disease. In the whole series, actuarial survival rates with native liver were 51% and 38% at 10 and 20 years, respectively, and overall survival rates were 68% and 62%, respectively. Neonatal cholestatic jaundice was associated with poorer survival with native liver (p=0.0004). CONCLUSIONS: The prognosis of liver disease in AGS is worse in children who present with neonatal cholestatic jaundice. However, severe liver complications are possible even after late onset of liver disease, demanding follow up throughout life.     

自身免疫病相关噬血细胞综合征22例临床分析

目的:通过对22例自身免疫病相关噬血细胞综合征(AAHS)患者临床资料分析,探讨本病的临床特点,提高对本病的认识。方法:对22例患者的临床表现、实验室检查、诊断、治疗方案及临床转归进行回顾性综合分析。结果:22例AAHS患者中,男4例,女18例,年龄16～62(33.73±10.63)岁,中位年龄31岁。基础病为成人Still病(AOSD)13例、系统性红斑狼疮(SLE)4例、干燥综合征(SS)1例、多发性肌炎(PM)1例、原发性胆汁性肝硬化(PBC)1例、组织细胞坏死性淋巴结炎(HNL)1例、皮肤血管炎1例。主要临床表现以持续高热(100%)、脾肿大(77%)最为多见。实验室检查所有患者均出现自然杀伤(NK)细胞活性下降、血清铁蛋白升高和清蛋白降低,其次较为常见的有噬血现象、转氨酶升高、可溶性CD25(sCD25)及乳酸脱氢酶水平升高,发生率均高于80%。外周血2系及以上血细胞减少占91%。22例AAHS患者经治疗后总体生存率为91%。结论:AAHS早期诊断和治疗预后较好。对于自身免疫病患者在常规方案治疗过程中,病情无明显缓解或出现急性加重时,同时伴有2系或以上血细胞减少、血清铁蛋白明显升高、肝功能损害严重等,应高度警惕噬血细胞综合征可能,积极完善相关检查明确诊断,及时积极有效治疗。     

An Adult Patient with Alagille Syndrome Showing Mainly Renal Failure and Vascular Abnormality without Liver Manifestation

Alagille syndrome is an inherited multisystemic disorder. We herein report an atypical case of a Japanese adult patient with Alagille syndrome. He had been diagnosed with Alagille syndrome as an infant based on a liver biopsy. At 27 years of age, he needed to start hemodialysis therapy, but an arteriovenous fistula was not created because his peripheral blood vessels were too narrow. He also had a recurrent brain infarction due to cerebral vascular stenosis. Alagille syndrome is generally recognized as a pediatric hepatic disease, but general physicians should be aware of its potential existence with renal involvement and vascular abnormalities.