摘要
为分析总结法布雷病患者临床资料,提高临床医生对该病的认识水平。回顾了2021年1月至2023年6月在山东大学齐鲁医院德州医院诊治的3例法布雷病患者,分析了患者年龄、性别、病史、临床症状、实验室检查、诊治过程及随访等资料。结果表明,患者男2例、女1例,发病年龄分别29岁、74岁、44岁,3例患者均通过临床表现、干血纸片法测定α-半乳糖苷酶A活性及基因检测明确诊断。慢性肾脏病3例,神经痛2例,心肌肥厚2例,脑梗死2例,少汗1例,晶状体及玻璃体混浊1例,高频听力异常1例。3例患者GLA基因变异位点分别为c.802-2A>G、c.370-90C>A、c.195-1052T>C。1例患者肾穿刺病理见髓鞘样小体沉积。2例患者肾脏替代治疗,1例患者接受阿加糖酶β酶替代治疗,1例患者激素治疗随访中。法布雷病临床表现差异性大,易漏诊、误诊,通过仔细询问病史、临床表现及相关检查明确诊断,对可疑患者常用干血纸片法测定α-半乳糖苷酶A作为初筛,确诊患者应尽早完善家系分析,帮助识别携带突变基因的家族成员。
This study aimed to summarize the clinical features of Fabry disease and to deepen our understanding of it.Three patients with Fabry disease treated in Dezhou Hospital,Qilu Hospital of Shandong University from January 2021 to June 2023 were reviewed.The data of age,sex,medical history,clinical symptoms,laboratory examination,diagnosis and treatment and follow-up were recorded.There were 2 males and 1 female.The age of onset was 29,74 and 44 years old.Patients were diagnosed by clinical manifestations,α-Gal A activity assay and gene detection.There were 3 cases of chronic kidney disease,2 cases of neuralgia,2 cases of myocardial hypertrophy,2 cases of cerebral infarction,1 case of hypohidrosis,1 case of lens and vitreous opacity and 1 case of high frequency hearing loss.The mutation sites of GLA gene in 3 patients were c.802-2A>G、c.370-90C>A、c.195-1052T>C.The deposition of myelin-like bodies was found in 1 patient by renal biopsy.2 patients were treated with renal replacement therapy,1 patient was treated with agalsidaseβ,and 1 patient was followed up with hormone therapy.There are great differences in clinical manifestations of Fabry disease,and it is easy to be missed and misdiagnosed.Through careful inquiry of medical history,clinical manifestations and related examination,we can make a clear diagnosis and perform family genetic screening as soon as possible to help identify family members carrying mutant genes.
作者
王雪
孔荣珍
高志华
李文跃
WANG Xue;KONG Rongzhen;GAO Zhihua;LI Wenyue(Department of Nephrology,Dezhou Hospital,Qilu Hospital of Shandong University,Dezhou Shandong 253000,China)
出处
《德州学院学报》
2025年第6期31-35,共5页
Journal of Dezhou University
关键词
法布雷病
慢性肾脏病
心肌肥厚
神经痛
Fabry disease
chronic kidney disease
myocardial hypertrophy
neuralgia
