以肝病为首发症状的成人肝豆状核变性5例分析

肝豆状核变性（hepatolenticular degeneration,HLD）,又称Wilson病（Wilson′ disease,WD）,系铜代谢障碍引起的以肝硬化、脑部基底节损害为主的一组临床综合征[1]。该病多见于儿童和青少年,临床表现多样,缺乏特异性,成人患者漏诊和误诊率较高,现将本中心收治的5例以肝病为首发症状的成人HLD患者的临床和实验室特点进行分析,以提高广大医务人员对该病的认识。     

肝豆状核变性28例临床分析

2000年1月～2005年12月，我院共收治以肝病为首发症状的肝豆状核变性（WD）患者28例。现报告如下。 临床资料：28例WD患者，男13例．女15例；年龄7～32岁，其中7～14岁发病16例，15-32岁12例。其亲属中1例死于WD,1例死于肝炎，1例死于肝硬化。病程为5d～8a。     

以习惯性流产起病的肝豆状核变性1例

肝豆状核变性又称Wilson病（wilson’s disease,WD）,是一种常染色体隐性遗传病,肝脏对铜代谢的异常导致铜在肝脏、神经系统等组织器官内堆积。临床缺乏特异性症状而容易漏诊或误诊。首发症状不一,多数以肝病症状为首发,其次以神经系统表现为主,少数以溶血性贫血、肾脏损害、骨关节病     

以肝病为首发表现的儿童肝豆状核变性临床、病理及基因突变特征研究

目的总结以肝病为首发表现的儿童肝豆状核变性（Wilson’sdisease,WD）的临床、病理及基陶突变特征,以提高对这类疾病的早期诊断水平。方法回顾性分析2005年1月--2013年1月我院收治的以肝病为首发表现的317例WD患儿（年龄11月龄～16岁,中位数9．0岁）的临床、病理及基因诊断资料。结果以肝病为首发表现的患儿如果病情未进展到晚期肝病,确诊WD前均无临床症状,25．9％的患者被误诊。31．9％的患儿存在贫血,18．6％的患儿合并肾损伤,90．9％的患儿血清铜蓝蛋白水平异常。≤7岁组Kayser-F1eiseher（K—F）环及头颅MRI检查阳性率分别为20．0％和O％,〉7岁组阳性率分别为79．1％和14．9％。肝脏病理主要病变表现为不同程度的慢性肝炎样改变,44．5％的患儿有不同程度的脂肪变性,35．4％有严重肝纤维化,14．0％有活动性肝硬化,82．3％铜染色阳性。39．O％的患儿出现ATP7B基因778号密码子突变,34．1％出现复合纯合突变,4．9％出现Thr935Met号密码子突变。结论对于任何年龄儿童出现不明原因的转氨酶增高和肝硬化,排除病毒性肝炎后首先应考虑WD的可能。即使血清铜蓝蛋白水平正常,K—F环和头颅MRI检查阴性也不能完全排除WD,须进一步通过患儿24h尿铜测定、青霉胺激发试验、肝脏病理学检查及ATP7B基因检测进行综合判断。     

肝肉瘤样癌误诊为肝细胞癌1例报告

肉瘤样癌是指形态学类似梭形细胞肉瘤但实际上为癌的一类较少见恶性肿瘤的总称,可以发生在全身多个器官,但以上呼吸道、肺、乳腺和肾常见^（[1]）。肝肉瘤样癌（sarcomatoid hepatocellular carcinoma,SHC）是发生于肝脏的一种少见的恶性肿瘤,恶性程度高,预后较差,1年生存率几乎为0^（[2]）。1病例资料患者男性,54岁,因＂发现肝占位2年,反复发热1个月＂     

以脑部症状为首发的肺癌误诊19例分析

肺癌的发病率与死亡率逐年上升^[1]。其临床表现呈多样性,非呼吸道症状发病的患者增加,以脑部症状为首发的肺癌亦不少见,经我院确诊的以脑部症状为首发的肺癌27例,首诊时误诊19例,误诊率70．4％,现将临床资料报告分析如下。     

以肝病为首发症状的小儿肝豆状核变性30例

我院1992年5月～1999年4月收治30例以肝病为首发症状的小儿肝豆状核变性（Wilson disease，WD），误诊为慢性肝炎、肝炎后肝硬化。现总结如下。1. 临床资料：(1)30例中男19例，女11例。年龄6～14岁。病程4d～3年。(2)家族史：有家族史的4例，3例为父辈，1例为同胞，主要表现均为肝病。(3)临床表现：绝大多数病例为隐性起病，多因查体发现肝功异常，肝脾肿大或出现肝功能失代偿就诊，以尿少、浮肿最多，占60%（18/30）。乏力、纳差占53.3%（16/30），合并症中腹膜炎占总数的13.3%（4/30）。伴随症状中，出现血尿1例；溶血性贫血2例；手颤2…     

儿童肝豆状核变性的诊断

肝豆状核变性(Wilson's disease,WD,表型MIM号277900)是铜代谢异常所致的遗传代谢性疾病,基因定位于13q14-q21(基因MIM号606882),单基因疾病,常染色体隐性遗传.致病基因为ATP7B,对应产物ATP7B蛋白是铜转运P型ATP酶.WD是广泛分布于人类各种族人群中的遗传性疾病,发病率约3/10万[1],人群携带1/90人[2].Mak等[3]计算香港地区的汉族发病率1/5400,远高于欧美人群.发病年龄以7～12岁最多见,是儿童肝病中的比较常见疾病.     

以肝病为首发表现的戊二酸尿症Ⅱ型1例及文献复习

戊二酸尿症Ⅱ型（glutaricaciduriatype11,GAⅡ）是一种脂肪酸氧化代谢障碍性疾病,属常染色体隐性遗传。其发病率低,到目前国内报道约100例[1-3]。该病临床表现复杂,个体差异大,累及多脏器,极易误诊。本文报道1例以肝病为首发表现的GAⅡ,并对相关文献进行复习。     

不同临床分型的Wilson’s病临床特点分析

探讨不同亚型Wilson’s病（WD）的临床特点及肝型患者预后转归。方法收集256例WD患者的临床资料并随访，根据临床表现将患者分为不同的临床亚型，进一步分析比较肝型、脑型和混合型WD患者的临床特点差异和随访追踪肝型WD患者的预后。结果在256例WD患者中，以混合型（152例，59.4%）和肝型（74例，28.9%）患者常见，而脑型（27例，10.5%）和其他亚型（3例，1.2%）较少；肝型WD患者失代偿期肝硬化比例（78.4%）高于混合型患者（22.0%，P〈0.001）；肝型WD患者肝脏血清生化学指标（转氨酶、ALP、GGT、胆红素以及球蛋白水平）高于混合型WD患者（P〈0.05）；肝型WD患者血清铜[（1.04±1.50） mg/L]水平明显低于脑型WD患者[（2.96±2.88） mg/L]和混合型WD患者[（2.34±2.68） mg/L，P〈0.001]，但两者铜蓝蛋白和尿铜水平无统计学差异（P〉0.05）；肝型WD患者K-F环检出率（64.9%）低于脑型WD患者（92.6%）和混合型WD患者（90.1%，P〈0.05）；经Logistic回归分析显示角膜K-F的有无与年龄（OR=0.922，P=0.014）、血清铜蓝蛋白（OR=35902.1，P=0.015）相关；平均随访31例肝型WD患者（8.3±5.8）年，3例（9.7%）进展为混合型WD患者。结论 WD以混合型和肝型最多见，肝型患者肝脏损害比混合型更为严重，提示肝脏是WD最主要的靶器官。     

Lung disease in Niemann-Pick disease

BACKGROUND: Lung involvement in children with Niemann-Pick disease has rarely been studied systematically. OBJECTIVE: To assess the involvement of the lung and the value of bronchoalveolar lavage in children with Niemann-Pick diseases. DESIGN: Retrospective analysis of patient records. PATIENTS: Thirteen patients, with type A (n = 1), type B (n = 10), and type C (n = 2) Niemann-Pick disease, aged 2 months to 9 years at diagnosis, were included in the study. INTERVENTIONS: Lung involvement was assessed by clinical evaluation, chest radiograph, lung computed tomography (CT) scan, pulmonary function tests, and bronchoalveolar lavage fluid analysis. RESULTS: Respiratory symptoms were present at diagnosis in 10 patients and developed during follow up in the three other patients. All patients showed signs of interstitial lung disease on chest X-ray and lung CT scan. Bronchoalveolar lavage fluid analysis (n = 7) revealed a marked accumulation of foamy macrophages (Niemann-Pick cells) in all patients. At follow up, one patient died of respiratory failure, five patients required long term oxygen therapy and seven other patients presented a chronic obstructive pulmonary disease (n = 6) or chronic cough (n = 1). CONCLUSION: Lung disease was observed in all the patients included in the present study. Bronchoalveolar lavage may be useful in Niemann-Pick diseases by showing the presence of characteristic Niemann-Pick cells.     

Periodontal disease and systemic disease

Periodontal diseases are now recognized as bacterial infections among the chronic diseases of humans. The influence of the oral environment on systemic health, especially the periodontium, has long been supported by scientific evidence. However, an evidence base for the influence of periodontal disease on vital organs such as heart, lung has only recently begun to be established. We are hopeful that this information will stimulate new collaborations between physicians and dentist and serve as basis for studies to help improve the total health.     

Buerger's disease and coronary disease

The authors report the case of a 33 year old man with distal occlusive arterial disease diagnosed as Buerger's disease, with two previous transient ischaemic attacks and coronary disease resulting in myocardial infarction. Coronary angiography showed narrowing of the second segment of the left anterior descending artery, occluded distally and not suitable for revascularisation. The observation of coronary artery disease is very rare in Buerger's disease and data of coronary angiography are very sparse in this context. The occurrence of myocardial infarction and the angiographic appearances of the left anterior descending artery raise the question of coronary involvement of Buerger's disease.     

冠状动脉硬化性心脏病和老年性痴呆

弄清冠状动脉硬化性心脏病是否与老年性痴呆有关联,有助于老年性痴呆的防治。我们从共同的危险因素载脂蛋白E4基因型以及二者的临床、病理的相关性方面,综述了冠状动脉硬化性心脏病与老年性痴呆的关系。其机制有待进一步研究。     

Gastro-oesophageal reflux disease and respiratory disease

Abstract An epidemiological survey showed that respiratory symptoms with gastro-oesophageal reflux (GER) were twice as high as those without GER symptoms. In 46 cases of unknown chronic cough or asthma, 67% had positive oesophageal pH monitoring. Of 34 patients with snoring and reflux symptoms, 16 (47.1%) were confirmed as positive for obstructive sleep apnoea (OSA) and GER. Anti-reflux therapy significantly improved both GER and OSA.     

Hepatobiliary disease in inflammatory bowel disease

Many hepatobiliary diseases are seen in IBD. PSC is the most common, occurring in 7.5% of patients with UC. The cause of PSC is not well understood, but PSC seems to be associated with genetic susceptibility, sharing some immunologic abnormalities with UC. A characteristic cholangiogram in a patient with abnormal liver function tests usually establishes the diagnosis. Liver biopsy is not essential but can help make the diagnosis of small duct PSC in patients with a normal cholangiogram. There are no medications that treat PSC effectively. Endoscopic dilation of dominant strictures reduces the frequency of cholangitis and may improve survival. OLT remains the only proven treatment of advanced PSC. Cholangiocarcinoma is a feared complication of PSC that is difficult to diagnose. Cholelithiasis, PBC, portal vein thrombosis, and hepatic abscess are hepatobiliary disorders that occur less frequently in IBD patients.     

Joint disease in inflammatory bowel disease

The joint disorders taxonomically included in the group of seronegative spondyloarthropathies under the generic name of enteropathic arthropathy represent the most frequent extra-intestinal manifestation of inflammatory bowel disease (IBD), affecting 33% of patients. Their frequency is similar to that of ulcerative colitis and Crohn's disease. Enteropathic arthropathy consists of two main joint alterations, peripheral and axial arthritis, as well as a variable group of other peri-articular disorders. Type 1, or pauciarticular, peripheral arthritis generally coincides with IBD exacerbations, while type 2, or polyarticular, peripheral arthritis follows an independent course from IBD. Axial involvement precedes and follows an independent course from IBD and can behave as ankylosing spondylitis or asymptomatic sacroiliitis. The treatment of these rheumatologic disorders is based on the application of general measures and the use of nonsteroidal anti-inflammatory agents; intraarticular corticosteroid administration may eventually become necessary. Sulphasalazine and/or infliximab, which are indicated when the previously mentioned measures fail, can be used to treat both the articular and intestinal diseases simultaneously.     

Cardiovascular disease and subsequent kidney disease

BACKGROUND: Chronic kidney disease is a risk factor for cardiovascular disease (CVD); however, it is uncertain if CVD is a risk factor for progression or development of kidney disease. METHODS: Individual patient data were pooled from 2 longitudinal, community-based, limited-access studies, the Atherosclerosis Risk in Communities Study and the Cardiovascular Health Study. Baseline CVD was defined by stroke, angina, claudication, transient ischemic attack, coronary angioplasty or bypass, and recognized or silent myocardial infarction. Study outcomes included kidney function decline, defined by an increase in serum creatinine level of at least 0.4 mg/dL (>or=35.4 micromol/L), and development of kidney disease, defined by an increase in serum creatinine level of at least 0.4 mg/dL (>or=35.4 micromol/L) in which the baseline serum creatinine level was less than 1.4 mg/dL (<123.8 micromol/L) in men and less than 1.2 mg/dL (<106.1 micromol/L) in women and the final serum creatinine levels exceeded these levels. Secondarily, kidney function decline was defined by an estimated glomerular filtration rate (eGFR) reduction of at least 15 mL/min per 1.73 m(2), and development of kidney disease was defined by an eGFR reduction of at least 15 mL/min per 1.73 m(2) in which the baseline eGFR was at least 60 mL/min per 1.73 m(2) and the final eGFR was below these levels. Multivariate logistic regression analysis was used to determine the association between CVD and outcomes. RESULTS: Among 13 826 individuals, the mean +/- SD baseline serum creatinine level was 0.9 +/- 0.2 mg/dL (79.6 +/- 17.7 micromol/L), and the mean +/- SD baseline eGFR was 89.8 +/- 20.1 mL/min per 1.73 m(2). In serum creatinine level-based models, 520 individuals (3.8%) experienced kidney function decline, and 314 individuals (2.3%) developed kidney disease during a mean +/- SD of 9.3 +/- 0.9 years of follow-up. Baseline CVD, present in 1787 individuals (12.9%), was associated with an increased risk of all outcomes (odds ratio, 1.70; 95% confidence interval, 1.36-2.13), an odds ratio of 1.75 (95% confidence interval, 1.32-2.32) for serum creatinine level, and odds ratios of 1.28 (95% confidence interval, 1.13-1.45) and 1.54 (95% confidence interval, 1.26-1.89) for eGFR for kidney function decline and development of kidney disease, respectively. CONCLUSION: Cardiovascular disease is independently associated with kidney function decline and with the development of kidney disease.     

Gastroesophageal reflux disease and extraesophageal disease

The patient with extraesophageal manifestations of gastroesophageal reflux disease presents a clinical challenge. Symptom presentation overlaps with other otolaryngologic and pulmonary disease, and heartburn might be infrequent or absent. Endoscopy and pH monitoring are insensitive and therefore not useful in many patients as diagnostic modalities. Thus, antisecretory therapy is used as both a diagnostic trial and as therapy in the majority. Attention to optimizing therapy and judicious use of endoscopy and reflux monitoring are needed to minimize cost and maximize success.