Empowering women at the heart of autosomal dominant polycystic kidney disease: Addressing unique challenges gender-sensitive approach

Abstract

Autosomal dominant polycystic kidney disease is a genetic disorder characterized by the progressive development of renal cysts, leading to end-stage renal disease in a significant proportion of affected individuals. While the disease affects both men and women, emerging evidence suggests that sex differences may influence the clinical presentation, progression, and response to treatment in autosomal dominant polycystic kidney disease patients. Based on our experience, women are diagnosed earlier and often experience more symptoms like chronic pain and microhematuria. However, disease progression tends to be slower. Hormonal therapy, controversial due to its impact on cyst growth, is important for contraception and conditions like polycystic ovary syndrome, endometriosis, and menopause. Copper intrauterine devices are the safest contraceptive option, while progestin-only methods are recommended for those who cannot take estrogen. This review aims to explore the implications of gender differences in autosomal dominant polycystic kidney disease, highlighting the need for personalized approaches to diagnosis, monitoring, and management. Emphasizing the integration of gender-based insights into clinical practice could ultimately lead to more tailored therapeutic strategies, improving patient outcomes in autosomal dominant polycystic kidney disease.

Keywords: ADPKD; disease progression; gender medicine; hormonal factors; personalized medicine.

Figure 1.

Menopause in ADPKD. ADPKD: autosomal dominant polycystic kidney disease.

Figure 2.

Multidisciplinary approach in ADPKD. ADPKD: autosomal dominant polycystic kidney disease; CT: computed tomography; MRI: magnetic resonance imaging; NGS: next-generation sequencing; PCOS: polycystic ovary syndrome; TKV: total kidney volume.