Trimarchi H, Forrester M, Lombi F, Pomeranz V, Raña M S, Karl A, Andrews J
Nephrology Service, Hospital Británico de Buenos Aires, Perdriel 74, 1280 Buenos Aires, Argentina.
Case Rep Nephrol. 2014;2014:854521. doi: 10.1155/2014/854521. Epub 2014 May 15.
Patients with Fabry disease present a higher risk of cardiovascular and kidney morbidity. We present a patient with a past history of biopsy-proven Fabry disease and stage 3 chronic kidney disease. Proteinuria partially dropped from 6.8 g/day to 2.1 g/day despite an aggressive regime which consisted of low-salt diet, agalsidase beta infusions, dual blockade of the renin-angiotensin system, and low-dose maintenance of steroids. As proteinuria is considered a risk marker of cardiovascular disease and of progression of kidney disease, we added amiloride 5 mg/day, a drug with proven effects in podocyte stabilization and proteinuria actions at the distal convoluted tubule. Proteinuria finally decreased to 0.8 g/day. This report highlights the relevance of intervening on proteinuria in a multitarget approach in order to reduce it as much as possible. Due to this pharmacological response, we suggest that although agalsidase beta specific treatment protects the endothelium, the podocyte, and the tubule in Fabry disease and secondary haemodynamic and immunologic pathways are treated with inhibition of the renin-angiotensin system and steroids, amiloride may act as a complementary tool in podocyte stabilization and in proteinuria effects at the distal tubule.
法布里病患者出现心血管和肾脏疾病的风险更高。我们报告了一名有活检证实的法布里病病史且患有3期慢性肾脏病的患者。尽管采取了包括低盐饮食、阿加糖酶β输注、肾素 - 血管紧张素系统双重阻断以及低剂量维持使用类固醇的积极治疗方案，但蛋白尿仍从6.8克/天部分降至2.1克/天。由于蛋白尿被认为是心血管疾病和肾脏疾病进展的风险标志物，我们加用了每日5毫克的氨氯吡咪，这是一种在足细胞稳定及对远曲小管蛋白尿作用方面已证实有效果的药物。蛋白尿最终降至0.8克/天。本报告强调了采用多靶点方法干预蛋白尿以尽可能降低其水平的重要性。基于这种药理反应，我们认为尽管阿加糖酶β特异性治疗可保护法布里病患者的内皮、足细胞和肾小管，并且通过抑制肾素 - 血管紧张素系统和使用类固醇来治疗继发性血流动力学和免疫途径，但氨氯吡咪可能在足细胞稳定及对远曲小管蛋白尿作用方面起到补充作用。
