Servicio de Cardiología, Hospital Universitario Ramón y Cajal, Madrid, España; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, España.
Servicio de Cardiología, Hospital General Universitario Dr. Balmis, Alicante, España; Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Alicante, España.
Med Clin (Barc). 2024 Nov 29;163(10):503-508. doi: 10.1016/j.medcli.2024.06.009. Epub 2024 Aug 27.
Fabry disease (FD) causes glycosphingolipid accumulation in the vascular endothelium, with predominantly cardiac and renal involvement. Its prevalence in patients with concomitant involvement of these two organs is unknown. The objective of the study was to determine the prevalence of FD in patients with left ventricular hypertrophy and any degree of chronic kidney disease.
Patients with ventricular thickness ≥13mm and kidney disease from 29 Spanish hospitals were included. Sociodemographic variables and target organ involvement of FD were collected. Laboratory determinations of EF were carried out, with an enzymatic activity test±genetic test in men and direct genetic test in women.
Eight hundred ninety-eight patients with left ventricular hypertrophy and chronic kidney disease were included. The presence of heart failure and cardiorenal syndrome was common (46.1% and 40.1%). Three patients (2 men and 1 woman) were diagnosed with FD, based on the presence of a pathogenic variant in the GLA gene and classic signs of FD, resulting in a prevalence of 0.33% (CI 95% 0.06-1%). Six patients (0.66%) presented genetic variants of unknown significance, without showing classic signs of FD, while in 13 patients (3.2%) performing the blood test was impossible.
FD is an important cause of left ventricular hypertrophy and chronic kidney disease. Genetic diagnosis is crucial for avoiding biases and ensuring accurate identification of FD, especially in women. The results support the inclusion of this disease in the differential diagnosis of patients with ventricular hypertrophy ≥13mm and chronic kidney disease.
法布里病（FD）导致糖脂在血管内皮中的积累，主要涉及心脏和肾脏。同时累及这两个器官的患者中，其患病率尚不清楚。本研究的目的是确定伴有左心室肥厚和任何程度慢性肾脏病的患者中 FD 的患病率。
纳入了来自 29 家西班牙医院的心室厚度≥13mm 和肾脏疾病的患者。收集了社会人口统计学变量和 FD 的靶器官受累情况。进行了 EF 的实验室测定，并对男性进行了酶活性检测±基因检测，对女性进行了直接基因检测。
纳入了 898 例伴有左心室肥厚和慢性肾脏病的患者。心力衰竭和心肾综合征的发生率较高（分别为 46.1%和 40.1%）。根据 GLA 基因中致病性变异的存在和 FD 的典型表现，有 3 名患者（2 名男性和 1 名女性）被诊断为 FD，患病率为 0.33%（95%CI 0.06-1%）。6 名患者（0.66%）携带意义不明的基因变异，无 FD 的典型表现，而在 13 名患者（3.2%）中无法进行血液检测。
FD 是左心室肥厚和慢性肾脏病的重要病因。基因诊断对于避免偏倚和确保 FD 的准确识别至关重要，尤其是在女性中。研究结果支持将该疾病纳入心室肥厚≥13mm 和慢性肾脏病患者的鉴别诊断中。
