Rozenfeld Paula A, Croxatto Oscar, Ebner Roberto, Fossati Carlos A
Facultad de Ciencias Exactas, Universidad Nacional de La Plata, Buenos Aires, Argentina.
Clin Exp Ophthalmol. 2006 Sep-Oct;34(7):689-94. doi: 10.1111/j.1442-9071.2006.01318.x.
Fabry disease is an X-linked disorder due to a deficiency of alpha-galactosidase A and leads to the accumulation of globotriaosylceramide (Gb3) in various cells. The detection of Gb3 deposits may help in the diagnosis. To date, no immunofluorescence-specific detection of Gb3 in conjunctival biopsies has been reported. The aim of this work was to detect Gb3 accumulation in conjunctival biopsies from Fabry patients by immunofluorescence.
Conjunctival biopsies taken from Fabry males and females, before and after enzyme replacement therapy, and normal controls were processed for immunofluorescence with a monoclonal antibody specific for Gb3.
Positive green immunofluorescence was observed in all biopsies from Fabry patients before enzyme replacement therapy. After 6 months of treatment, immunofluorescence in blood vessels was not observed.
Immunofluorescence detection of Gb3 in conjunctival biopsies may be a reliable method for the diagnosis of Fabry disease in family members, and to evaluate effectiveness of enzyme replacement therapy.
法布里病是一种X连锁疾病，因α-半乳糖苷酶A缺乏所致，可导致多种细胞中球三糖神经酰胺（Gb3）蓄积。Gb3沉积物的检测有助于诊断。迄今为止，尚未见关于结膜活检中Gb3的免疫荧光特异性检测的报道。本研究旨在通过免疫荧光检测法布里病患者结膜活检组织中的Gb3蓄积情况。
对法布里病男性和女性患者在酶替代治疗前后所取的结膜活检组织以及正常对照组织，用针对Gb3的单克隆抗体进行免疫荧光处理。
在酶替代治疗前，法布里病患者的所有活检组织均观察到绿色免疫荧光阳性。治疗6个月后，未观察到血管中的免疫荧光。
结膜活检组织中Gb3的免疫荧光检测可能是诊断法布里病家族成员以及评估酶替代治疗效果的可靠方法。
