Sharma Aashish, Sartori Marco, Zaragoza Jose J, Villa Gianluca, Lu Renhua, Faggiana Elena, Brocca Alessandra, Di Lullo Luca, Feriozzi Sandro, Ronco Claudio
International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy.
Department of Nephrology, St. Bortolo Hospital, 37, Viale Rodolfi, 36100, Vicenza, Italy.
Heart Fail Rev. 2015 Nov;20(6):689-708. doi: 10.1007/s10741-015-9500-0.
Cardiorenal syndrome type 5 (CRS-5) includes conditions where there is a simultaneous involvement of the heart and kidney from a systemic disorder. This is a bilateral organ cross talk. Fabry's disease (FD) is a devastating progressive inborn error of metabolism with lysosomal glycosphingolipid deposition in variety of cell types, capillary endothelial cells, renal, cardiac and nerve cells. Basic effect is absent or deficient activity of lysosomal exoglycohydrolase a-galactosidase A. Renal involvement consists of proteinuria, isosthenuria, altered tubular function, presenting in second or third decade leading to azotemia and end-stage renal disease in third to fifth decade mainly due to irreversible changes to glomerular, tubular and vascular structures, especially highlighted by podocytes foot process effacement. Cardiac involvement consists of left ventricular hypertrophy, right ventricular hypertrophy, arrhythmias (sinus node and conduction system impairment), diastolic dysfunction, myocardial ischemia, infarction, transmural replacement fibrosis, congestive heart failure and cardiac death. Management of FD is based on enzymatic replacement therapy and control of renal (with anti-proteinuric agents such as angiotensin-converting enzyme inhibitors-and/or angiotensin II receptor blockers), brain (coated aspirin, clopidogrel and statin to prevent strokes) and heart complications (calcium channel blockers for ischemic cardiomyopathy, warfarin and amiodarone or cardioverter device for arrhythmias).
5型心肾综合征（CRS-5）包括因全身性疾病同时累及心脏和肾脏的情况。这是一种双侧器官间的相互作用。法布里病（FD）是一种严重的进行性先天性代谢紊乱疾病，溶酶体糖鞘脂在多种细胞类型中沉积，包括毛细血管内皮细胞、肾细胞、心肌细胞和神经细胞。其基本病因是溶酶体外切糖苷酶α-半乳糖苷酶A缺乏或活性不足。肾脏受累表现为蛋白尿、等渗尿、肾小管功能改变，通常在二三十岁时出现，在三四十岁时发展为氮质血症和终末期肾病，主要是由于肾小球、肾小管和血管结构发生不可逆变化，足细胞足突消失尤为突出。心脏受累表现为左心室肥厚、右心室肥厚、心律失常（窦房结和传导系统功能障碍）、舒张功能障碍、心肌缺血、梗死、透壁性替代性纤维化、充血性心力衰竭和心源性死亡。法布里病的治疗基于酶替代疗法以及对肾脏（使用抗蛋白尿药物，如血管紧张素转换酶抑制剂和/或血管紧张素II受体阻滞剂）、脑部（使用包衣阿司匹林、氯吡格雷和他汀类药物预防中风）和心脏并发症（使用钙通道阻滞剂治疗缺血性心肌病，使用华法林和胺碘酮或心脏复律设备治疗心律失常）的控制。
