Keber Tajda, Tretjak Martin, Cokan Vujkovac Andreja, Mravljak Marija, Ravber Katja, Vujkovac Bojan
Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia.
Am J Case Rep. 2017 Jun 9;18:644-648. doi: 10.12659/ajcr.903886.
BACKGROUND Fabry disease is a rare and progressive X-linked inherited disorder of glycosphingolipid metabolism that is due to deficient or absent lysosomal a-galactosidase A activity. Among its other associated signs and symptoms, patients present with renal failure and proteinuria, which are markers of disease progression. Renin-angiotensin-aldosterone system (RAAS) blockers can slow the progression of chronic renal failure and proteinuria. In fact, some studies have shown the beneficial effects of paricalcitol on proteinuria. CASE REPORT We present a case of a female patient with the classic variant of Fabry disease. She was treated with a high dose of paricalcitol as an antiproteinuric agent due to unsatisfactory double-RAAS blockage, which resulted in transient worsening of cardiac and renal function. CONCLUSIONS Despite the positive effects of paricalcitol as an antiproteinuric agent, as previously shown by some authors, our case highlights the possible serious adverse effects associated with the use of high doses of this drug.
法布里病是一种罕见的、进行性的X连锁隐性遗传性鞘糖脂代谢紊乱疾病，由溶酶体α-半乳糖苷酶A活性缺乏或缺失所致。在其其他相关体征和症状中，患者会出现肾衰竭和蛋白尿，这些是疾病进展的标志。肾素-血管紧张素-醛固酮系统（RAAS）阻滞剂可减缓慢性肾衰竭和蛋白尿的进展。事实上，一些研究已显示帕立骨化醇对蛋白尿有有益作用。病例报告：我们报告一例患有法布里病经典变异型的女性患者。由于双重RAAS阻断效果不佳，她接受了高剂量帕立骨化醇作为抗蛋白尿药物治疗，结果导致心脏和肾功能短暂恶化。结论：尽管如一些作者之前所示，帕立骨化醇作为抗蛋白尿药物有积极作用，但我们的病例突出了使用高剂量该药物可能产生的严重不良反应。
