Veroux Massimiliano, Monte Ines P, Rodolico Margherita S, Corona Daniela, Bella Rita, Basile Antonio, Palmucci Stefano, Pistorio Maria L, Lanza Giuseppe, De Pasquale Concetta, Veroux Pierfrancesco
Organ Transplantation Unit, University Hospital of Catania, Department of Medical and Surgical sciences and Advanced Technologies, University of Catania, 95123 Catania, Italy.
Cardiology Department Echocardiography Laboratory, Department of Cardiothoracic and Vascular, Policlinico "Vittorio Emanuele", University of Catania, 95123 Catania, Italy.
Biomedicines. 2020 Oct 7;8(10):396. doi: 10.3390/biomedicines8100396.
Fabry disease (FD) is a rare cause of end-stage renal disease requiring kidney transplantation. Data on the incidence of unrecognized FD in kidney transplant recipients are scarce and probably underestimated. This study evaluated the incidence of FD in a population of kidney recipients, with a particular focus of the multidisciplinary approach for an early clinical assessment and therapeutic approach. Two hundred sixty-five kidney transplant recipients were screened with a genetic analysis for α-galactosidase A (GLA) mutation, with measurement of α-Gal A enzyme activity and Lyso Gb3 levels. Screening was also extended to relatives of affected patients. Seven patients (2.6%) had a GLA mutation. Two patients had a classic form of FD with Fabry nephropathy. Among the relatives, 15 subjects had a GLA mutation, and two had a Fabry nephropathy. The clinical and diagnostic assessment was completed after a median of 3.2 months, and mean time from diagnosis to treatment was 4.6 months. This study reported a high incidence of unrecognized GLA mutations in kidney transplant recipients. Evaluation and management by a multidisciplinary team allowed for an early diagnosis and treatment, and this would result in a delay in the progression of the disease and, finally, in better long-term outcomes.
法布里病（FD）是终末期肾病需要肾移植的罕见病因。肾移植受者中未被识别的FD发病率数据稀少且可能被低估。本研究评估了肾移植受者群体中FD的发病率，特别关注早期临床评估和治疗方法的多学科方法。对265名肾移植受者进行了α-半乳糖苷酶A（GLA）突变的基因分析，同时测量了α-Gal A酶活性和溶酶体Gb3水平。筛查还扩展到受影响患者的亲属。7名患者（2.6%）有GLA突变。2名患者患有伴有法布里肾病的经典型FD。在亲属中，15名受试者有GLA突变，2名有法布里肾病。临床和诊断评估在中位时间3.2个月后完成，从诊断到治疗的平均时间为4.6个月。本研究报告了肾移植受者中未被识别的GLA突变的高发病率。多学科团队的评估和管理实现了早期诊断和治疗，并将导致疾病进展延迟，最终获得更好的长期预后。
