First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, 300193, China.
National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin, 300193, China.
J Mol Med (Berl). 2024 Jun;102(6):773-785. doi: 10.1007/s00109-024-02446-4. Epub 2024 Apr 26.
Autosomal dominant polycystic kidney disease is a genetic kidney disease caused by mutations in the genes PKD1 or PKD2. Its course is characterized by the formation of progressively enlarged cysts in the renal tubules bilaterally. The basic genetic explanation for autosomal dominant polycystic kidney disease is the double-hit theory, and many of its mechanistic issues can be explained by the cilia doctrine. However, the precise molecular mechanisms underpinning this condition's occurrence are still not completely understood. Experimental evidence suggests that aquaporins, a class of transmembrane channel proteins, including aquaporin-1, aquaporin-2, aquaporin-3, and aquaporin-11, are involved in the mechanism of autosomal dominant polycystic kidney disease. Aquaporins are either a potential new target for the treatment of autosomal dominant polycystic kidney disease, and further study into the physiopathological role of aquaporins in autosomal dominant polycystic kidney disease will assist to clarify the disease's pathophysiology and increase the pool of potential treatment options. We primarily cover pertinent findings on aquaporins in autosomal dominant polycystic kidney disease in this review.
常染色体显性多囊肾病是一种由 PKD1 或 PKD2 基因突变引起的遗传性肾脏疾病。其病程的特征是双侧肾小管内进行性增大的囊肿形成。常染色体显性多囊肾病的基本遗传解释是双打击理论，其许多机制问题可以用纤毛学说来解释。然而，这种疾病发生的确切分子机制仍不完全清楚。实验证据表明，水通道蛋白是一类跨膜通道蛋白，包括水通道蛋白-1、水通道蛋白-2、水通道蛋白-3 和水通道蛋白-11，参与常染色体显性多囊肾病的发病机制。水通道蛋白可能成为治疗常染色体显性多囊肾病的一个新的潜在靶点，进一步研究水通道蛋白在常染色体显性多囊肾病中的生理病理作用将有助于阐明疾病的病理生理学，并增加潜在的治疗选择。本文主要综述了常染色体显性多囊肾病中水通道蛋白的相关研究进展。
