Chair of Nephrology, Department of Public Health, University Federico II of Naples, Naples, Italy.
Chair of Statistics, Department of Public Health, University Federico II of Naples, Naples, Italy.
Nephrol Dial Transplant. 2018 Feb 1;33(2):318-323. doi: 10.1093/ndt/gfx009.
Fabry's disease (FD) is a rare, multi-organ lysosomal disease, caused by the deficiency of the enzyme α-galactosidase A, and is difficult to diagnose. Although parapelvic cysts (PC) were previously associated with FD, their prevalence and significance are unclear.
The present study aimed to: (i) evaluate, by renal ultrasound, the real prevalence of PC and of their determinants in a multicentre, nationwide cohort of FD patients (n = 173, Study 1) and (ii) ascertain whether a greater accuracy of PC detection improved their identification, in FD patients from a single centre (n = 67, Study 2). In both studies, for each FD patient, an age- and renal function-matched subject was selected for comparison (1:1).
In Study 1, PC were detected in 28.9% of FD subjects and in only 1.1% of control subjects (P < 0.001). The presence of other renal abnormalities did not differ between the groups, nor differences exist in the main demographic and laboratory parameters between the groups. In Study 2, the greater accuracy of ultrasound increased PC prevalence from 29.8% to 43.3% in the same subjects (P < 0.05). In both studies, no correlation was detected between PC and the main demographic, clinical and biochemical parameters, including use of enzyme replacement therapy (P < 0.1, minimum value). Finally, no difference existed between FD patients with and without PC.
The present study suggests that the presence of PC in renal patients should alert physicians to consider the diagnosis of FD, primarily in subjects with an unclear family history of renal disease and in the presence of other stigmata of the disease.
法布里病（FD）是一种罕见的多器官溶酶体疾病，由α-半乳糖苷酶 A 缺乏引起，难以诊断。虽然肾盂旁囊肿（PC）以前与 FD 有关，但它们的患病率和意义尚不清楚。
本研究旨在：（i）通过肾脏超声评估多中心、全国性 FD 患者队列（n=173，研究 1）中 PC 的真实患病率及其决定因素，以及（ii）确定是否提高 PC 检测的准确性可以改善 FD 患者（n=67，研究 2）中 PC 的识别。在这两项研究中，为每个 FD 患者选择了一名年龄和肾功能匹配的对照者进行比较（1:1）。
在研究 1 中，FD 患者中有 28.9%存在 PC，而对照组中仅有 1.1%（P<0.001）。两组之间其他肾脏异常的存在没有差异，两组之间主要的人口统计学和实验室参数也没有差异。在研究 2 中，超声准确性的提高使相同患者的 PC 患病率从 29.8%增加到 43.3%（P<0.05）。在这两项研究中，PC 与主要的人口统计学、临床和生化参数之间均未检测到相关性，包括酶替代治疗的使用（P<0.1，最小值）。最后，存在和不存在 PC 的 FD 患者之间没有差异。
本研究表明，在肾脏患者中存在 PC 应提醒医生考虑 FD 的诊断，尤其是在具有不明确家族史的肾脏疾病和存在其他疾病迹象的患者中。
