Department of Internal Medicine, University of Genoa, Genoa, Italy.
Unit of Nephrology, Dialysis, and Transplantation, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
BMC Nephrol. 2023 Nov 21;24(1):344. doi: 10.1186/s12882-023-03388-8.
Fabry disease (FD) is an X-linked inherited lysosomal disorder due to a deficiency of the enzyme alpha-galactosidase A (α-gla) due to mutations in the GLA gene. These mutations result in plasma and lysosome accumulation of glycosphingolipids, leading to progressive organ damage and reduced life expectancy. Due to the availability of specific disease-modifying treatments, proper and timely diagnosis and therapy are essential to prevent irreversible complications. However, diagnosis of FD is often delayed because of the wide clinical heterogeneity of the disease and multiple organ involvement developing in variable temporal sequences. This observation is also valid for renal involvement, which may manifest with non-specific signs, such as proteinuria and chronic kidney disease, which are also common in many other nephropathies. Moreover, an additional confounding factor is the possibility of the coexistence of FD with other kidney disorders. Thus, suspecting and diagnosing FD nephropathy in patients with signs of kidney disease may be challenging for the clinical nephrologist. Herein, also through the presentation of a unique case of co-occurrence of autosomal dominant polycystic kidney disease and FD, we review the available literature on cases of coexistence of FD and other renal diseases and discuss the implications of these conditions. Moreover, we highlight the clinical, laboratory, and histological elements that may suggest clinical suspicion and address a proper diagnosis of Fabry nephropathy.
法布瑞氏病（FD）是一种 X 连锁遗传性溶酶体贮积病，由于 GLA 基因突变导致α-半乳糖苷酶 A（α-gla）缺乏。这些突变导致糖脂在血浆和溶酶体中蓄积，导致进行性器官损伤和预期寿命缩短。由于有特定的疾病修饰治疗方法，因此适当和及时的诊断和治疗对于预防不可逆转的并发症至关重要。然而，由于该病临床表现广泛，且多个器官受累的时间顺序不同，FD 的诊断常常被延误。这种情况在肾脏受累时也同样存在，肾脏受累可能表现为蛋白尿和慢性肾脏病等非特异性症状，这些症状在许多其他肾脏病中也很常见。此外，还存在 FD 与其他肾脏疾病同时存在的可能性，这是一个额外的混杂因素。因此，对于有肾脏疾病迹象的患者，临床肾病学家怀疑和诊断 FD 肾病可能具有挑战性。在此，我们还通过介绍一例常染色体显性多囊肾病和 FD 共存的独特病例，回顾了 FD 与其他肾脏疾病共存的病例的现有文献，并讨论了这些情况的影响。此外，我们强调了可能提示临床怀疑并确定 Fabry 肾病适当诊断的临床、实验室和组织学特征。
