Fabry disease: where are we now?
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NEPHROLOGY - REVIEW
Fabry disease: where are we now? K. Turkmen1 · I. Baloglu1 Received: 25 March 2020 / Accepted: 15 June 2020 © Springer Nature B.V. 2020
Abstract Fabry disease (FD) is a multisystemic X-linked disorder characterized by the accumulation of lysosomal globotriaosylceramide (Gb3) secondary to decreased activity of α-galactosidase in cells. Generally, males are more severely affected due to the X-linked inheritance pattern of the disease. However, females are asymptomatic or have a less severe pattern of disease. Enzyme replacement therapy (ERT) is the cornerstone of the treatment of FD. At present, there are two forms of ERT that can be applied to FD patients. Novel therapeutic approaches including chaperone therapy, substrate reduction therapy, and gene therapy have been introduced in the era of treatment of FD. In this review, we aimed to discuss the prevalence, clinical and genetic features, pathophysiology, diagnosis, and therapeutic options in FD patients with nephropathy. Keywords Fabry disease · Inflammation · Autophagy · Apoptosis · Enzyme replacement therapy · Substrate reduction therapy · Gene therapy
Introduction Fabry disease (FD, OMIM # 301500) is a systemic X-linked disease characterized by the accumulation of lysosomal globotriaosylceramide (Gb3) secondary to decreased activity of α-galactosidase in all cells [1]. To date, more than 70 lysosomal storage disorders have been identified and FD is the second most common one after Gaucher disease. In 1898, for the first time, two patients with “angiokeratoma corporis diffusum” were described by Fabry and Anderson [2, 3]. After this first description, many case reports were reported. The recent introduction of enzyme replacement therapy to address the underlying pathophysiology of FD has focused attention on the need for comprehensive, multidisciplinary evaluation and management of multi-organ system involvement. In anticipation of evidence-based recommendations, an international panel of physicians with expertise in FD has proposed guidelines for the recognition, evaluation, and surveillance of disease-associated morbidities, as well as therapeutic strategies, including enzyme replacement and other adjunctive therapies, to optimize patient outcomes [4]. * K. Turkmen [email protected] 1
Division of Nephrology, Department of Internal Medicine, Meram School of Medicine, Necmettin Erbakan University, Konya, Turkey
In this review, we aimed to discuss the prevalence, clinic and genetic features, pathophysiology, diagnosis, and therapeutic options in FD patients with nephropathy.
Prevalence and clinical and genetic features of Fabry disease Prevalence of Fabry disease The prevalence of FD varies between 1/3100 and 1/117.000 in Europe [5]. However, it can be underestimated due to the broad spectrum of clinical phenotypes. This spectrum ranges from various clinical presentations depending on residual α-galactosidase (α-Gal A) activity and gender of the patients. In newborn screening studies, the prevalence was found to be 1/1250 [6, 7]. M
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