Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Eur Rev Med Pharmacol Sci. 2023 Apr;27(7):3134-3141. doi: 10.26355/eurrev_202304_31947.
Fabry's disease (FD) is a genetic disorder of lysosomal storage characterized by the intralysosomal accumulation of globotriaosylceramide (Gb3). This genetic mutation causes a total or partial deficit of the α-galactosidase (GAL) enzyme activity. FD has an incidence of 1:40000-60000 born alive. Its prevalence is higher in specific pathological conditions like chronic kidney disease (CKD). The aim of this study was to evaluate the FD prevalence in Italian renal replacement therapy (RRT) patients from Lazio region.
485 patients in RRT (hemodialysis, peritoneal dialysis, and kidney transplantation) were recruited. The screening test was performed on venous blood sample. The latter was analyzed using specific FD diagnostic kit, based on the analysis of dried blood spots on filter paper.
We found 3 cases of positivity to FD (1 female and 2 males). In addition, 1 male patient was identified with biochemical alteration indicative of GAL enzyme deficiency with a genetic variant of the GLA gene of unknown clinical significance. The FD prevalence in our population was 0.60% (1 case out 163), it rises to 0.80% (1 case out of 122) if the genetic variant of unknown clinical significance is considered. Comparing the three subpopulations, we observed a statistically significant difference in GAL activity in transplanted patients compared to dialysis patients (p<0.001).
Considering the presence of an enzyme replacement therapy able to modify FD clinical history, it is essential to try to implement FD early diagnoses. However, the screening is too expensive to be extended on large scale, due to the low prevalence of the pathology. The screening should be performed on high-risk populations.
法布里病（FD）是一种溶酶体贮积症的遗传性疾病，其特征是溶酶体内糖鞘脂（Gb3）的积累。这种基因突变导致α-半乳糖苷酶（GAL）酶活性完全或部分缺乏。FD 的发病率为每 40000-60000 名活产婴儿中就有 1 例。在慢性肾脏病（CKD）等特定病理情况下，其患病率更高。本研究旨在评估意大利拉齐奥地区接受肾脏替代治疗（RRT）的患者中 FD 的患病率。
共招募了 485 名接受 RRT（血液透析、腹膜透析和肾移植）的患者。在静脉血样上进行筛选试验。使用特定的 FD 诊断试剂盒对血液进行分析，该试剂盒基于滤纸干燥血斑的分析。
我们发现 3 例 FD 阳性（1 例女性和 2 例男性）。此外，1 名男性患者的 GAL 酶缺乏生化改变，携带 GLA 基因的遗传变异，其临床意义未知。我们人群中的 FD 患病率为 0.60%（163 例中有 1 例），如果考虑到临床意义未知的遗传变异，患病率则上升至 0.80%（122 例中有 1 例）。比较这三个亚群，我们观察到移植患者的 GAL 活性与透析患者相比存在统计学显著差异（p<0.001）。
鉴于有能够改变 FD 临床病史的酶替代治疗，尽早诊断 FD 至关重要。然而，由于该病理的低患病率，筛查过于昂贵，无法大规模推广。筛查应针对高危人群进行。
