西班牙血液透析患者中法布里病的患病率。

Prevalence of Fabry's disease within hemodialysis patients in Spain.

作者信息

Herrera Julio, Miranda Clara Sa

出版信息

Clin Nephrol. 2014 Feb;81(2):112-20. doi: 10.5414/CN108053.

DOI:10.5414/CN108053

PMID:24365053

Abstract

AIMS

To identify patients with Fabry's disease (FD) within patients with kidney dysfunction, submitted to hemodialysis.

SUBJECTS AND METHODS

Patients under hemodialysis were screened using a combined enzymatic α-Gal A assay and dried blood spot samples to determine GLA genotype.

RESULTS

A total of 3,650 samples (18.5% of all patients under hemodialysis in Spain) were tested and 11 new unrelated FD patients (4 males and 7 females) were diagnosed. 66 relatives of 11 patients were tested and 23 new FD patients were identified. This study allowed the diagnosis of 34 FD patients. Among the 11 unrelated FD patients, 5 presented the same R118C mutation and one novel mutation was detected: D109G.

CONCLUSIONS

This study reveals the need for screening for FD in all patients under hemodialysis for unknown causes and indicates that the incidence and prevalence of FD are underestimated so far.

摘要

目的

在接受血液透析的肾功能不全患者中识别法布里病（FD）患者。

研究对象与方法

对接受血液透析的患者采用联合酶促α - 半乳糖苷酶A检测和干血斑样本检测来确定GLA基因型。

结果

共检测了3650份样本（占西班牙所有接受血液透析患者的18.5%），诊断出11例新的无亲缘关系的FD患者（4例男性和7例女性）。对11例患者的66名亲属进行了检测，又识别出23例新的FD患者。本研究共诊断出34例FD患者。在11例无亲缘关系的FD患者中，5例存在相同的R118C突变，还检测到1个新突变：D109G。