原发性醛固酮增多症的遗传机制与靶向治疗策略探究
摘要
制极为复杂，遗传因素在其中扮演了重要角色。伴随着基因测序技术的飞速进步，科研人员已经陆续揭示了若干与
PA病理相关的关键性基因变异，包括KCNJ5、CACNA1D、ATP1A1以及ATP2B3等。这些基因的变异直接影响到
肾上腺皮质细胞的离子通道功能及醛固酮的分泌调节，进而触发该疾病的发展。基于这些遗传学发现，开发针对性
的治疗方案已经成为当前研究的焦点。靶向离子通道调节剂、基因编辑技术以及小分子抑制剂，均被认为是有望为
PA患者实现个性化治疗的潜在手段。然而，当前针对这些治疗手段的临床应用，仍然存在许多严峻的挑战，主要涉
及药物的特异性、长期疗效以及安全性等核心问题。鉴于此，本研究借助系统性的文献综述和分析，全面概括了PA
的遗传机制以及靶向治疗策略的研究进展，旨在为未来的临床诊疗实践提供科学的理论参考，同时为新型治疗方案
的研发奠定坚实的理论基础。
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