Gender Medicine and Personalized Care: Approach and Management of Autosomal Dominant Polycystic Kidney Disease. The Impact of Female Sex on the Disease

Abstract

Gender medicine explores how sex differences influence the onset, progression, and perception of specific diseases.  In the case of ADPKD, female sex seems to impact various aspects of the condition. Women with ADPKD may experience a different progression of the disease compared to men, with a higher predisposition to developing certain complications such as polycystic liver disease, which can have a range of clinical consequences of varying severity. Perception and subjective experience of the disease can also vary significantly, affecting emotional well-being and quality of life.
Pregnancy, for instance, represents a critical phase for women with ADPKD, requiring specialized monitoring and specific management to address potential complications. Genetic counseling is essential for providing informational support and helping families understand the hereditary implications of the disease. Modern pre-implantation diagnostic techniques also allow for the identification of the disease before birth, improving family planning and reducing the risk of transmission.
Another important aspect is hormonal therapy, which was previously excluded in women with ADPKD due to concerns about potential effects on the growth of hepatic cysts. However, with advances in knowledge and increasing attention to specific needs, a targeted individual approach to hormonal therapy may prove beneficial, offering new therapeutic opportunities.
Looking ahead, it is desirable for gender medicine to continue evolving, leading to increasingly personalized disease management and optimized care, with a positive impact on the overall well-being of individual patients.

Keywords: ADPKD, polycystic kidney disease, gender medicine

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Introduzione

La medicina di genere

Negli ultimi decenni, la medicina di genere ha acquisito un’importanza crescente come disciplina fondamentale per comprendere le differenze biologiche e socioculturali tra i sessi e il loro impatto sulla salute. Tradizionalmente, la ricerca medica si è basata su modelli prevalentemente univoci, che hanno portato a una generalizzazione dei risultati, spesso inadeguata nel rispecchiare accuratamente le specifiche esigenze e risposte fisiologiche dei singoli individui [1].

Nel 1991, McMurray evidenziò la disparità di genere nella medicina, mostrando come donne e uomini vengano spesso trattati con gli stessi protocolli, nonostante questi siano stati studiati e validati principalmente sul sesso maschile [2].

È ormai ampiamente riconosciuto che uomini e donne possono presentare manifestazioni differenti nell’ambito della stessa malattia e rispondere in modo diverso alle terapie. La medicina di genere mira a colmare questa lacuna, offrendo una visione più dettagliata e personalizzata delle cure sanitarie. Si tratta di un campo emergente e innovativo che adotta un approccio olistico per comprendere a fondo le dinamiche di salute e malattia, tenendo conto dell’interazione complessa tra fattori biologici, psicologici e socioculturali.