The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study
The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study
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DOI：
10.1159/000452605
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发表时间：
2016-01-01
影响因子：
2.8
通讯作者：
Ortiz, Alberto
中科院分区：
文献类型：
--
作者：
Turkmen, Kultigin;Guclu, Aydin;Ortiz, Alberto
背景/目的：Fabry病是慢性肾脏病(CKD)的一种可治疗的病因，其特征是α-半乳糖苷酶A基因缺陷。欧洲肾脏最佳实践(BERP)推荐在CKD患者中筛查Fabry病。然而，这是基于专家的意见，没有关于法布里病在1-5期CKD中流行的报告。因此，我们调查了未接受肾脏替代治疗的CKD患者中Fabry病的患病率。方法：这项前瞻性研究评估了313例CKD患者干血斑点的α-半乳糖苷酶活性，这些患者年龄在18-70岁之间，年龄在18-70岁之间，年龄在1-5岁之间。GLA基因突变分析证实了该诊断。结果：313例CKD患者中3例(均为男性)确诊为Fabry病(0.95%)，男性患病率为1.80%。家系筛查确诊8例单纯法布里CKD患者。在11名Fabry患者中，7名男性开始了酶替代治疗，4名女性。男性患者最常见的症状是乏力(100%)、耳鸣、眩晕、肢端感觉、汗量减少、角膜轮状突起和血管角化瘤(均为85%)、热耐受(71%)和腹痛(57%)。女性患者最常见的临床表现为乏力、角膜轮状(50%)、耳鸣、眩晕和血管角化瘤(25%)。3名患者有严重的阵发性腹痛发作和蛋白尿，并被误诊为家族性地中海热。结论：Fa Bry病在选定的CKD患者中的患病率与肾脏替代治疗患者中发现的范围相同，但该疾病被诊断为更早的、可治疗的阶段。这些数据支持BERP对不明原因CKD患者进行Fabry病筛查的建议。(C)2016年作者(S)，S.Karger AG，巴塞尔出版
Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of a-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. Methods: This prospective study assessed a-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy. The diagnosis was confirmed by GLA gene mutation analysis. Results: Three (all males) of 313 CKD patients (0.95%) were diagnosed of Fabry disease, for a prevalence in males of 1.80%. Family screening identified 8 aditional Fabry patients with CKD. Of a total of 11 Fabry patients, 7 were male and started enzyme replacement therapy and 4 were female. The most frequent manifestations in male patients were fatigue (100%), tinnitus, vertigo, acroparesthesia, hypohidrosis, cornea verticillata and angiokeratoma (all 85%), heat intolerance (71%), and abdominal pain (57%). The most frequent manifestations in female patients were fatigue and cornea verticillata (50%), and tinnitus, vertigo and angiokeratoma (25%). Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever. Conclusions: The prevalence of Fa bry disease in selected CKD patients is in the range found among renal replacement therapy patients, but the disease is diagnosed at an earlier, treatable stage. These data support the ERBP recommendation to screen for Fabry disease in patients with CKD of unknown origin. (C) 2016 The Author(s) Published by S. Karger AG, Basel