Fabry病的心脏受累表现

目的:提高心内科医生对Fabry病患者心脏受累表现的认识和诊断。方法:入选住院诊治的7例Fabry病患者,对其中有心脏受累表现的5例患者的一般情况、病史、家族史、主要症状、心电图与超声心动图表现进行分析。结果:5例患者均为男性,年龄为13～40岁,血白细胞α-半乳糖苷酶水平均显著低于正常。心脏症状有活动后气短、心悸和心律不齐。心电图显示有左心室高电压、ST-T改变、窦性停搏和频发房性期前收缩。超声心动图检查提示有瓣膜受累合并或不合并功能不全、左心室肥厚和心内膜增厚。结论:Fabry病患者心脏受累比较常见,仔细询问家族史和其他系统受累症状,有助于Fabry病患者的识别。     

Fabry病的筛查

Fabry病又称弥漫性躯体血管角质瘤，因JohannFabry和WilliamAnderson各报道该病1例而得名。其病因是由于α半乳糖苷酶A（alpha—galactosidaseA，α-GalA）部分或完全缺失引起，其编码基因GLA位于Xq22．1。Fabry病患者先天性α—GalA缺乏，     

Fabry心肌病的研究进展

Fabry病是一种因GLA基因突变导致的X染色体连锁遗传性溶酶体贮积病,水解酶α半乳糖苷酶完全或部分缺乏活性,导致体内鞘糖脂无法正常降解而贮积在各种组织。心脏受累常见,称为Fabry心肌病。心脏受累是患者死亡的主要原因之一,受损部位包括心肌、传导系统、瓣膜及冠状动脉。本文就Fabry心肌病遗传机制、临床表现、诊断与治疗的新进展作一综述。     

Fabry病合并心脏受累的诊治进展

Fabry病是由编码溶酶体水解酶α-半乳糖苷酶A的GLA基因突变引起的X染色体连锁隐性模式遗传的溶酶体贮积症.绝大多数Fabry病患者合并心脏受累,出现包括心肌肥厚、传导障碍、心律失常、瓣膜病变、心力衰竭等复杂并发症,其中心脏性猝死是Fabry病患者死亡的首要原因.生物标志物水平测定及基因检测是目前诊断Fabry病的主...     

一个Fabry病家系的GLA基因突变分析

目的 对一个临床诊断的非典型Fabry病患者进行α半乳糖苷酶基因(GLA)进行突变分析。方法 抽取患者家系中4名成员的外周血基因组DNA，PCR分段扩增位于Xq22的GLA基因的7个外显子，产物纯化后直接进行DNA测序检测突变。结果 测序显示，男性患者GLA基因的第6外显子存在CGA301CAA(Arg301Gln)突变，该患者为带有突变基因的半合子，母亲为携带突变基因的杂合子，哥哥及父亲为CGA301野生型的半合子。结论 对临床诊断的Fabry病患者及其亲属，进行GLA基因突变检测可以进行基因诊断，并有助于早期筛选出家系中的其他患者。     

Fabry病累及心脏一例

患者男,39岁.因阵发头晕、心悸2年入院.2003年12月10日患者无明显诱因阵发头晕,自查脉搏有间歇,服异搏定后症状加重,于当地医院查ECG：“窦房阻滞,最长间歇4s”.12月28日夜间突发胸闷、喘憋,持续约30 min,ECG：“V1-3导联ST段弓背向上抬高0.2～0.5 mV,Ⅱ、Ⅲ、aVF导联ST段水平压低0.2～0.3 mV,”多次查心肌酶结果正常,诊断“急性前间壁心肌梗死待除外”,予抗凝扩冠治疗,半年后复查ECG：ST段渐回落,T波由深到逐渐变浅.出院后患者仍间断心悸、头晕,近2个月来加重,无黑矇,为进一步诊治入我院.患者自幼少汗,10岁起出现阴囊黑色皮疹,此后逐渐扩展至其他部位.     

累及心脏的Fabry病诊疗流程

Fabry病是由于X染色体中GLA基因变异导致α半乳糖苷酶A活性丧失或减低的罕见溶酶体贮积病.其引起的三己糖酰基鞘脂醇贮积可累及包括心脏在内的多个器官.心脏受累主要表现为心肌肥厚、心力衰竭、心律失常等,易与肥厚型心肌病相混淆.引入酶替代治疗后,早期诊断和治疗对减缓疾病进展和预防心血管并发症至关重要.     

Fabry病一例报道并文献复习

目的：探讨Fabry 病的临床表现、诊断及鉴别诊断，提高临床医师对Fabry病的认识，降低漏诊率。方法：报道1例罕见的Fabry病肾损害，结合文献对该病的临床表现、诊断、鉴别诊断及治疗和预后进行探讨。结果：患者为中年男性，发病年龄为30岁，临床表现主要为肾脏损伤及周围神经病变，伴有尿毒症家族史，中性粒细胞测α-半乳糖苷酶示酶活性：0nmol/mg/hr，基因突变：p.H125T（c.373C>T），最终确诊Fabry病。患者曾至多家医院就诊，均未明确病因，漏诊率高。结论：Fabry病属于遗传性肾脏疾病，为临床罕见性疾病，容易漏诊，确诊需仔细的询问病史、肾脏病理检查、测定血清α-半乳糖苷酶水平及基因诊断。     

以心肌肥厚为主要临床表现的法布里病母子案例分析

<正>法布里病(Fabry disease)是一种由GLA基因突变引起的X连锁溶酶体储存障碍,导致α- 半乳糖苷酶A活性缺乏,致使鞘糖脂在体液和全身细胞溶酶体中积累。出现皮肤、周围神经、肾脏、脑、眼、胃肠道及心血管等多器官系统的损害。其中,心脏受累的特征性表现为进行性心肌肥厚、心肌纤维化、心律失常和心力衰竭,称为Fabry心肌病,具有心脏猝死的潜在风险^[1]。本文报道以心肌肥厚为主要表现的法布里病母子病例,以提高对法布里病男女性发病的认识。     

肝性脊髓病三例

1 病例简介 患者1，男，52岁，6年前诊断为乙型肝炎，肝炎后肝硬化。1个月前出现四肢无力并进行性加重，以双下肢为著，行走困难，抬足无力，四肢感觉无异常于2005年9月20日来我院。入院查体：全身皮肤散在出血点，巩膜轻度黄染，脾大，肝区轻度叩击痛，移动性浊音阳性，双下肢腱反射活跃。双下肢肌力Ⅲ级。双上肢肌力Ⅳ级，双侧巴氏征阳性。颅脑MRI：双侧基底核区对称性异常信号，考虑为变性改变。HBsAg（＋），抗-HBe（＋），抗-HBc（＋）。入院诊断：乙型肝炎后肝硬化，肝功能失代偿期，肝性脊髓病（HM）。予保肝、利尿、降氨、营养神经等对症治疗。1个月后出院。四肢无力症状无明显缓解。亦无明显加重。     

Joint manifestations of Fabry's disease

Summary We describe 2 patients with Fabry's disease with disabling crises of burning pain in hands and feet. These crises were accompanied by fever and an elevation of the erythrocyte sedimentation which often led to erroneous diagnosis of other rheumatic conditions. Fabry's disease should be considered on the different diagnoses of intermitent rheumatic syndromes.     

Small bowel ischaemia in Fabry's disease

Abstract A patient with previously diagnosed Fabry's disease and a long history of post-prandial abdominal pain died following small bowel infarction. Post-mortem demonstrated Fabry's type deposits in the small vessels and nerves supplying the bowel but in addition, a localized atheromatous stenosis of the superior mesenteric artery. In retrospect, his terminal illness and possibly his chronic symptoms were related to the latter finding. Angioplasty to the superior mesenteric artery may have been of benefit. Mesenteric angiography should be considered in patients with chronic post-prandial pain because large vessel disease may coexist with other a priori pathologies and is imminently treatable.     

Clinical features of Fabry's disease in Australian patients

Abstract
Background:  Anticipating the prospect of specific treatment, we studied a large group of Australians with Fabry's disease.
Aims: We aimed to: (i) document the clinical ­features of Fabry's disease in Australian patients, (ii) test the hypothesis that clinical features vary with specific mutation and blood group and (iii) assess small-fibre peripheral nerve function.
Methods: A questionnaire was forwarded to all Australian patients known to us. Patients were invited to attend for clinical, renal cardiac, ophthalmological and neurological assessment.
Results: Sixty-seven patients (29 men and 38 women) from 18 families participated. Diagnosis in index cases was delayed by ≥10 years in nearly all families. Common clinical features are: (i) episodic acropar­aesthesia (100% of hemizygotes; 53% of heterozygotes), (ii) anhydrosis (93%; 1%), (iii) characteristic rash (93%; 13%), (iv) renal disease (69%; 21%), (v) ischaemic heart disease (28%; 26%), (vi) palpitations (62%; 29%), (vii) mitral valve murmurs (37%; 23%) and (viii) premature cerebro­vascular disease (31%; 5%). Ophthalmic findings of cornea verticillata (96%; 76%) and anterior cataract (48%; 14%) were common. Findings were variable within and between families. In women, anhydrosis reliably predicts the presence of significant Fabry's renal disease. Small nerve fibre testing using quantitative sensory testing was clearly abnormal in 95% of male patients, and in those female patients with para­esthesiae.
Conclusions: Symptoms of anhydrosis, acroparaesthesiae, rash and renal disease suggest diagnosis of Fabry's. Women are commonly symptomatic, and the advent of therapy highlights the practical advantage of earlier diagnosis. (Intern Med J 2002; 32: 575−584)     

以肺部表现为首发症状的抗Jo-1抗体综合征

目的 分析以肺部表现为首发症状的抗Jo-1抗体综合征的临床特征、治疗方法及预后，以提高对其认识。方法 回顾性分析44例抗Jo-1抗体阳性的多发性肌炎/皮肌炎(PM/DM)患者的临床资料，重点分析9例以肺部表现为首发症状的抗Jo-1抗体综合征的肺部及肺外临床特征、治疗方案及预后。结果 患者多以咳嗽、发热、气短等症状起病，肺部症状可出现于肌肉和皮肤表现之前，导致漏诊或误诊，胸部CT能够较及时发现肺间质病变；与非肺部表现起病的其他病例比较，除典型DM皮疹外，其余肺外临床特征如炎性肌病、多关节炎／关节痛、发热、技工手、雷诺现象等均无统计学差异；以激素联合免疫抑制剂治疗有效。结论 以肺部表现为首发症状的抗Jo-1综合征患者常以非特异性肺部症状起病，应注意间质性肺病的诊断与鉴别诊断。激素联合免疫抑制剂治疗有效；治疗后磷酸肌酸激酶(CK)值的变化可能与疾病预后相关。     

Cardiac involvement in Fabry's disease

Clinical Fabry's disease is due to any of multiple mutations in the X-linked alpha-galactosidase gene. These mutations are kindred-specific, often spontaneous, and produce varying degrees of functional enzyme deficiency resulting in deposits of specific glycosphingolipid (cerumide), especially in the vasculature, kidneys, heart and reticuloendothelial tissue. Disease frequency has probably been over-estimated at 1/40,000; so few centres have developed clinical experience of the disease, though the disease has been identified in all major racial groups.     

Vestibular and cochlear manifestations in Fabry's disease

Anderson-Fabry's disease corresponds to an inherited disorder transmitted by an X-linked recessive gene. The disease is caused by an alpha-galactosidase deficiency leading to an abnormal glycosphingolipid metabolism, resulting in glycosphingolipids deposits all over the body. The disease affects all organs over the body and can be responsible for central nervous system or renal failure, heart attack, which can lead for early death in absence of diagnosis and treatment. In addition to these life-threatening manifestations, other problems which may have a profound impact on quality of life, such as hearing loss, have been relatively neglected. Thus, a large proportion of patients with Fabry's disease suffer from sensorineural hearing loss, with both progressive hearing impairment and sudden deafness, and peripheral vestibular deficits with dizziness and vertigo. The exact pathophysiologic mechanism(s) of those otological complications is still studied, but both cochleo-vestibular disorder and vascular origin seems to be involved. For many years, only symptomatic treatment has been available. For the past ten years, the introduction of enzyme replacement therapy with recombinant agalsidase-α or -β provides new prospect for these patients, decreasing the risk of complications. Still on study, it may also be active both on hearing loss and vestibular disturbances.     

后循环脑梗死的临床特点及相关危险因素分析

目的分析后循环脑梗死的临床表现、病变部位和危险因素,为预测后循环脑梗死的预后,并进一步为预防后循环脑梗死的发生和发展提供科学依据。方法前瞻性研究收集自2011年1月至2012年12月共110例后循环脑梗死患者的临床资料,分析症状和体征的出现频率,记录病变部位和危险因素,推测后循环脑梗死的病因。结果后循环脑梗死患者的年龄39⁹2岁,平均(68.1±11.9)岁,男性患者占66.4%。后循环脑梗死最常见的症状为头晕/眩晕(69.1%),肢体无力(47.3%),一般常见的症状为言语不清(29.1%),行走不稳(26.4%)和吞咽困难/饮水呛咳(24.5%)。最常见的体征为肢体瘫痪(55.5%),Babinski征/Chaddock征阳性(47.3%),共济失调(42.7%),中枢性面瘫(40.0%)和感觉减退(30.0%)。后循环脑梗死的危险因素有高血压(76.4%),糖尿病(44.5%),吸烟(42.7%),血脂异常(34.5%)和冠心病(26.4%)。病变部位以脑干病变最多(40.9%),其次为后循环供血区多发性脑梗死(31.8%)。大动脉硬化是后循环脑梗死主要的病因,颅内动脉狭窄(33.6%)和颅外动脉狭窄(34.5%)较常见。结论后循环脑梗死最常见的症状和体征是头晕/眩晕,肢体瘫痪,危险因素是高血压、糖尿病、吸烟、血脂异常和冠心病,脑干梗死最常见,颅内外大动脉病变是主要的病因。