Section of Nephrology, Yale University School of Medicine, New Haven, CT.
Am J Kidney Dis. 2013 Oct;62(4):806-9. doi: 10.1053/j.ajkd.2013.04.017. Epub 2013 Jun 21.
D-penicillamine, used to treat cystinuria, is known to cause impaired collagen deposition and dysfunction in elastic fibers. D-penicillamine also has been associated with glomerular abnormalities, typically membranous glomerulonephritis. We describe a patient with severe bilateral cystic kidney disease that developed after long-term D-penicillamine use for treatment of cystinuria. The cysts in the kidneys were noted during an evaluation for acute kidney injury. The patient had no evidence of cysts on prior renal imaging at a time when his kidney function was normal. Simultaneously, he presented with multiorgan manifestations of D-penicillamine toxicity, including the skin findings of cutix laxa and elastosis perforans serpiginosa. Consequently, D-penicillamine treatment was discontinued, after which the progression of cystic kidney disease gradually ceased, along with the other systemic manifestations of toxicity. To our knowledge, this is the first report of cystic kidney disease associated with and perhaps caused by long-term d-penicillamine therapy. The proposed mechanism of cyst formation is the malfunction of the extracellular matrix of the kidney by d-penicillamine that leads to an impaired repair process after kidney injury.
青霉胺用于治疗胱氨酸尿症，已知其可导致胶原蛋白沉积受损和弹性纤维功能障碍。青霉胺也与肾小球异常有关，通常是膜性肾小球肾炎。我们描述了一例长期使用青霉胺治疗胱氨酸尿症后发生严重双侧囊性肾病的患者。在评估急性肾损伤时发现了肾脏中的囊肿。在肾功能正常时，患者的先前肾脏影像学检查没有发现囊肿的证据。同时，他还出现了青霉胺毒性的多器官表现，包括皮肤松弛和穿孔弹性纤维变性的表现。因此，停止了青霉胺治疗，此后囊性肾病的进展逐渐停止，同时毒性的其他全身表现也停止了。据我们所知，这是首例与长期使用 D-青霉胺治疗相关且可能由其引起的囊性肾病报告。囊肿形成的机制是青霉胺导致肾脏细胞外基质功能障碍，从而在肾脏损伤后导致修复过程受损。
