Glycogenic hepatopathy

Background

Glycogenic hepatopathy (GH) is a disorder associated with uncontrolled diabetes mellitus, most commonly type 1, expressed as right upper quadrant abdominal pain, hepatomegaly and increased liver enzymes. The diagnosis may be difficult, because laboratory and imaging tests are not pathognomonic. Although GH may be suggested based on clinical presentation and imaging studies, the gold standard for diagnosis is a liver biopsy, showing a significant accumulation of glycogen within the hepatocytes. GH may be diagnosed also after elevated liver enzymes in routine blood tests. GH usually regresses after tight glycemic control. Progression to end-stage liver disease has never been reported. This review aims to increase the awareness to this disease, to suggest a pathway for investigation that may reduce the use of unnecessary tests, especially invasive ones.

血浆纤维连接蛋白水平与肝脏疾病的关系

对114例不同肝脏病患者和30例正常人血浆纤维连接蛋白（Fn）进行了测定，同时检测肝功能各项指标。结果，正常对照组血浆Fn水平为2．94±0．60g／L，与对照组相比，急性肝炎（2．71±0．92g／L）、慢性活动性肝炎（2．82±0．94g／L）无显著差异（P＞0．05）；重症肝炎（1．64±0．68g／L、肝硬化（1．53±0．57g／L）显著降低（P＜0．001）。丙氨酸转氨酶（ALT）在30u以下者，Fn浓度在正常范围，随ALT升高，Fn水平降低。血浆Fn与肝功能各指标相关分析表明，血浆Fn与ALT、血清总胆红素（TBil）、直接胆红素（DBil）和麝香草酚浊度（TFT）呈负相关，与总蛋白（TP）和白蛋白（Alb）呈正相关，其中与ALT（r＝－0．8393）和Alb（r＝0．9377）相关性有显著意义（P＜0．05，P＜0．01）。上述结果提示血浆Fn水平与肝脏病的严重性及肝功能的损害程度有一定关系。     

清肝活血方治疗酒精性肝病的临床研究

为观察清肝活血方治疗酒精性肝病的疗效,65例患者随机分为3组进行治疗。清肝活血方组（35例）服用自拟清肝活血方,小柴胡冲剂组（15例）服用小柴胡汤,支持疗法组（15例）服用肝泰乐和维生素C,分别观察症状,体征,肝功能,血脂,肝纤维化标志物,细胞因子的改善,变化情况。结果：清肝活血方组症状和体征均有改善,各观测指标治疗前后亦有不同程度改善,总有效率优于其他两组（P＜0．05）,提示清肝活血方对酒精性肝病有明显治疗作用。     

恶性疟原虫疫苗研究VIPfCMR基因与人白细胞介素-2基因的连接与克隆

用限制性内切酶ＥｃｏＲＩ和ＳａｌＩ将恶性疟原虫复合抗原基因ＰｆＣＭＲ从质粒ｐＷＲ４５０－１／ＰｆＣＭＲ中切下，插入质粒ｐＢＶ２２０／ＩＬ－２中人白细胞介素－２（ＩＬ－２）基因的ＥｃｏＲＩ位点。重组质粒转化大肠杆菌ＤＨ５ａ，通过ＰＣＲ扩增和酶切鉴定，筛选出正向插入的重组载体ｐＢＶ２２０／ＰｆＣＭＲ－ＩＬ－２。为表达ＰｆＣＭＲ－ＩＬ－２融合蛋白打下基础。     

Diagnosis of monogenic liver diseases in childhood by next‐generation sequencing

Next‐generation sequencing (NGS) has opened up novel diagnostic opportunities for children with unidentified, but suspected inherited diseases. We describe our single‐center experience with NGS diagnostics in standard clinical scenarios in pediatric hepatology. We investigated 135 children with suspected inherited hepatopathies, where initially no causative pathogenic variant had been identified, with an amplicon‐based NGS panel of 21 genes associated with acute and chronic hepatopathies. In 23 of these patients, we detected pathogenic or likely pathogenic variants in 10 different genes. We present 6 novel variants. A total of 14 of these patients presented with the characteristic phenotype of the related hepatopathy. Nine patients showed only few or atypical clinical symptoms or presented with additional signs. In another 13 out of 135 cases, we detected variants of unknown significance (VUS) in 9 different genes. Only 2 of these patients showed characteristic phenotypes conclusive with the detected variants, whereas 11 patients showed unspecific or atypical phenotypes. Our multi‐gene panel is a fast and comprehensive tool to diagnose inherited pediatric hepatopathies. We also illustrate the challenge of dealing with genetic variants and highlight arising clinical questions, especially in patients with atypical phenotypes.     

肝病红外治疗仪联合针灸对肝郁脾虚型肝硬化患者的临床疗效观察

目的:观察肝病红外治疗仪联合针灸对肝郁脾虚型肝硬化代偿期患者的临床疗效。方法:选取2014年12月至2016年12月在上海市公共卫生临床中心的中医科住院患者及门诊治疗的肝郁脾虚型肝硬化患者患者87例,随机分为肝病红外治疗仪组40例和肝病红外治疗仪联合针灸组47例。肝病红外观察组在常规治疗基础上采用肝病红外治疗仪进行治疗30 min/d;肝病红外治疗仪联合针灸组在常规治疗基础上予肝病红外治疗仪联合针灸治疗。30个工作日为1个疗程。观察并比较2组Fibro Scan、中医临床症状评分。结果:治疗后2组中医临床症状评分:胁痛、腹部胀满评分及Fibro Scan均较治疗前有所改善(均P0.05),组间比较,肝病红外治疗仪联合针灸组对失眠、腹部胀满、恶心厌食、腹泻、乏力倦怠的疗效优于肝病红外治疗仪组(P0.05)。在中医临床症状疗效比较中,肝病红外治疗仪联合针灸组总有效率为41.2%,肝病红外观察组总有效率为23.22%,总有效率有统计学意义。在临床疗效分级构成比方面,肝病红外治疗仪联合针灸组明显优于肝病红外观察组(P0.05)。在患者临床指标比较中,2组患者治疗后Fibro Scan指标均有明显改善(P0.05)。结论:肝病红外治疗仪联合针灸治疗能有效改善肝郁脾虚型肝硬化代偿期患者的中医临床症状及Fibro Scan指标。     

酒精性肝病与胰岛素抵抗的关系

目的：探讨酒精性肝病与胰岛素抵抗的关系。方法：观察43例酒精性肝病和12例正常人对照组空腹血糖、血胰岛素和胰岛素敏感指数。结果：酒精性肝病患者随病情加重胰岛素敏感系数逐渐增加,且均高于对照组（P＜0．05）。酒精性肝硬化患者血胰岛素高于对照组和其他酒精性肝病患者（P＜0．01）。结论：胰岛素抵抗现象随酒精性肝损伤的加重明显增加。     

Mitochondrial hepatopathy: Respiratory chain disorders- ‘breathing in and out of the liver’

Mitochondria, the powerhouse of a cell, are closely linked to the pathophysiology of various common as well as not so uncommon disorders of the liver and beyond. Evolution supports a prokaryotic descent, and, unsurprisingly, the organelle is worthy of being labeled an organism in itself. Since highly metabolically active organs require a continuous feed of energy, any dysfunction in the structure and function of mitochondria can have variable impact, with the worse end of the spectrum producing catastrophic consequences with a multisystem predisposition. Though categorized a hepatopathy, mitochondrial respiratory chain defects are not limited to the liver in time and space. The liver involvement is also variable in clinical presentation as well as in age of onset, from acute liver failure, cholestasis, or chronic liver disease. Other organs like eye, muscle, central and peripheral nervous system, gastrointestinal tract, hematological, endocrine, and renal systems are also variably involved. Diagnosis hinges on recognition of subtle clinical clues, screening metabolic investigations, evaluation of the extra-hepatic involvement, and role of genetics and tissue diagnosis. Treatment is aimed at both circumventing the acute metabolic crisis and long-term management including nutritional rehabilitation. This review lists and discusses the burden of mitochondrial respiratory chain defects, including various settings when to suspect, their evolution with time, including certain specific disorders, their tiered evaluation with diagnostic algorithms, management dilemmas, role of liver transplantation, and the future research tools.     

血吸虫病肝病影像学表现及研究进展

血吸虫病在我国广泛流行,至2015年我国仍有3万余晚期肝纤维化的血吸虫病人。本文从血吸虫病肝病的病理变化、临床表现、影像学表现及影像诊断价值等4个方面展开论述,重点综述了血吸虫病肝病的典型影像学表现及影像新技术对肝纤维化程度的评估。     

血浆置换联合血液灌流治疗重度药物性肝病12例临床分析

目的探讨血浆置换和血液灌流在重度药物性肝损害治疗中的作用。方法对我院2003年~2004年收治的12例重度药物性肝功能损害患者的治疗情况进行回顾性分析。结果12例患者(包括4例急性肝功能衰竭)患者经过内科综合治疗联合血浆置换和血液灌流治疗,均痊愈出院。结论血浆置换联合血液灌流是治疗重度药物性肝损害有效的重要手段。