Facoltà di Medicina e Chirurgia, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Unità Operativa Complessa di Nefrologia, Dipartimento di Scienze Mediche e Chirurgiche, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Nutrients. 2024 Aug 6;16(16):2582. doi: 10.3390/nu16162582.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of renal failure. The pathogenesis of the disease encompasses several pathways and metabolic alterations, including the hyperactivation of mTOR and suppression of AMPK signaling pathways, as well as mitochondrial dysfunction. This metabolic reprogramming makes epithelial cyst-lining cells highly dependent on glucose for energy and unable to oxidize fatty acids. Evidence suggests that high-carbohydrate diets may worsen the progression of ADPKD, providing the rationale for treating ADPKD patients with calorie restriction and, in particular, with ketogenic dietary interventions, already used for other purposes such as in overweight/obese patients or in the treatment of refractory epilepsy in children. Preclinical studies have demonstrated that calorie restriction may prevent and/or slow disease progression by inducing ketosis, particularly through increased beta-hydroxybutyrate (BHB) levels, which may modulate the metabolic signaling pathways altered in ADKPK. In these patients, although limited, ketogenic intervention studies have shown promising beneficial effects. However, larger and longer randomized controlled trials are needed to confirm their tolerability and safety in long-term maintenance and their additive role in the therapy of polycystic kidney disease.
常染色体显性多囊肾病(ADPKD)是最常见的遗传性肾衰竭病因。该疾病的发病机制包括多个途径和代谢改变,包括 mTOR 的过度激活和 AMPK 信号通路的抑制以及线粒体功能障碍。这种代谢重编程使上皮囊衬细胞高度依赖葡萄糖供能,无法氧化脂肪酸。有证据表明,高碳水化合物饮食可能会使 ADPKD 的进展恶化,为治疗 ADPKD 患者采用热量限制提供了依据,特别是采用生酮饮食干预,这种方法已经用于其他目的,如超重/肥胖患者或治疗儿童难治性癫痫。临床前研究表明,热量限制通过诱导酮症,特别是通过增加β-羟丁酸(BHB)水平,可能预防和/或减缓疾病进展,这可能调节 ADPKD 中改变的代谢信号通路。在这些患者中,尽管有限,但生酮干预研究显示出有希望的有益效果。然而,需要更大和更长时间的随机对照试验来确认其在长期维持中的耐受性和安全性,以及它们在多囊肾病治疗中的附加作用。