法布雷病10例临床分析  

Clinical analysis of 10 patients with Fabry disease

作　　者：汪润泽 肖红波[1] Wang Runze;Xiao Hongbo(Department of Nephrology,Peking University Shenzhen Hospital,Shenzhen 518036,China;School of Medicine,Shenzhen University,Shenzhen 518036,China)

机构地区：[1]北京大学深圳医院肾内科,深圳518036 [2]深圳大学医学部,深圳518036

出　　处：《中华内科杂志》2024年第1期89-93,共5页Chinese Journal of Internal Medicine

摘　　要：分析10例法布雷病(FD)患者的临床资料。10例患者中男6例,女4例,年龄(28.80±9.27),其中经典型7例,迟发型3例。10例患者中,出现皮肤受累、发生皮肤血管角质瘤6例,少汗或无汗5例,间歇性神经痛9例,面部出现眶上嵴外凸、额部隆起和嘴唇增厚3例;蛋白尿5例,其中1例患者慢性肾脏病3期,1例患者终末期肾病;心脏受累3例,2例患者出现心肌肥厚病变,1例患者有瓣膜结构不全。7例患者半乳糖苷酶活性下降(2.80~1.55μmol·L^(-1)·h^(-1))。10例患者血浆脱乙酰基-GL-3升高(3.12~120.00 ng/ml)。3例患者行肾组织活检病理检查,局灶性节段性肾小球硬化2例,系膜增生性肾小球肾炎1例;足细胞均见大量髓样小体和斑马小体3例,其中1例肾小管上皮细胞少量髓样小体和斑马小体,肾间质偶见斑马小体。9例患者GLA基因突变。1例患者出现c.102T>A,为新发突变。4例患者行阿加糖酶α治疗(0.2 mg/kg,每2周静脉输注1次),均预后良好。法布雷病临床表现多样,多系统受累,需多学科协作,半乳糖苷酶活性检测、血浆脱乙酰基-GL-3、GLA基因突变检测可协助精确诊断。We aimed to analyze the clinical data of 10 patients(6 male and 4 female)with Fabry disease(FD).The mean age of the patients was(28.80±9.27)years.Seven patients had classical FD and three had delayed onset FD.Among the 10 patients,six had skin involvement and cutaneous angiokeratoma;five had hypohidrosis or anhidrosis;nine had intermittent neuralgia;and three had supraorbital ridge protrusion,forehead bulge,and lip thickening.Five patients had proteinuria,including one with chronic kidney disease stage 3 and one with chronic kidney disease stage 5.Cardiac involvement occurred in three patients,two had myocardial hypertrophy and one had valvular insufficiency.The activity of galactosidase decreased in seven patients(2.80-1.55μmol·L^(-1)·h^(-1)).Plasma deacetyl-GL-3 was elevated in all 10 patients(3.12-120.00 ng/ml).Three patients underwent renal biopsy,wherein two cases of focal segmental glomerulosclerosis and one of mesangial proliferative glomerulonephritis was found.A large number of myeloid and zebra bodies were found in the podocytes in three patients,including a small number of myeloid and zebra bodies in the renal tubular epithelial cells in one patient with occasional zebra bodies in the renal interstitium.Nine patients had GLA gene mutations.One patient was c.102T>A,a de novo mutation.Four patients were treated with agalsidaseαinjection(0.2 mg/kg,intravenous infusion every 2 weeks),and their prognosis was good.FD has various clinical manifestations and multi-system involvement,which requires multidisciplinary cooperation.Detection of galactosidase activity,plasma globotriaosylsphingosine,and GLA gene mutation can help for accurate diagnosis.

关 键 词：法布里病 α半乳糖苷酶A 脱乙酰基GL-3 GLA基因 

分 类 号：R589[医药卫生—内分泌]