Pearce Helen, Mabillard Holly
Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN UK.
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ UK.
J Rare Dis (Berlin). 2023;2(1):18. doi: 10.1007/s44162-023-00022-x. Epub 2023 Nov 8.
Alport syndrome is a rare genetic disease that results in disordered basement membrane type IV collagen resulting in haematuria, proteinuria and often development of renal fibrosis leading to progressive kidney disease. The therapeutic blockage of the renin-angiotensin-aldosterone system, which slows the progression to kidney failure, is supported by strong evidence. Recent clinical trials using sodium-glucose co-transporter-2 (SGLT2) inhibitors and mineralocorticoid receptor antagonists (MRA) in patients with chronic kidney disease have changed the therapeutic landscape. Patients with Alport syndrome and progressive kidney disease may benefit from treatment with MRAs because research has shown that these drugs are nephroprotective through a variety of mechanisms, including by preventing fibrosis. Ongoing clinical trials show great promise in order to help establish the long-term safety and efficacy of Finerenone, a MRA. This review discusses the evidence for the use of MRAs as a potential treatment in Alport syndrome that may slow the progression of chronic kidney disease and prevent patients reaching kidney failure.
奥尔波特综合征是一种罕见的遗传性疾病,它会导致IV型胶原基膜紊乱,从而引起血尿、蛋白尿,并常常发展为肾纤维化,进而导致进行性肾病。肾素-血管紧张素-醛固酮系统的治疗性阻断可减缓肾衰竭的进展,这有强有力的证据支持。最近在慢性肾病患者中使用钠-葡萄糖协同转运蛋白2(SGLT2)抑制剂和盐皮质激素受体拮抗剂(MRA)的临床试验改变了治疗格局。患有奥尔波特综合征和进行性肾病的患者可能会从MRA治疗中获益,因为研究表明这些药物通过多种机制具有肾脏保护作用,包括预防纤维化。正在进行的临床试验在帮助确定MRA非奈利酮的长期安全性和有效性方面显示出巨大前景。本综述讨论了使用MRA作为奥尔波特综合征潜在治疗方法的证据,该方法可能减缓慢性肾病的进展并防止患者发展至肾衰竭。