[Mitochondrial diseases and urolithiasis: Is there an association? Literature review about 2 cases].

Abstract

Urolithiasis corresponds to the formation of stones in the urinary tract. It is a multifactorial metabolic disorder; its formation is related to oxidative stress and inflammatory processes. The mitochondria, for its part, is an intracellular organelle that plays a role in the regulation of intracellular oxidative stress and intracellular calcium homeostasis, both processes related to urolithiasis. Mitochondrial diseases are diverse pathologies that compromise different organs, including the urinary system.

Materials: Two cases of patients with mitochondrial diseases under study are presented who debuted with urinary symptoms with septic shock caused by a ureterolithiasis complicated by urinary infection.

Results: Different pathophysiological mechanisms have been proposed in the literature that relate the different mitochondrial diseases with the presence of urolithiasis. We divide them into direct damage mechanisms, that is, the dysfunctional mitochondria would act actively in the formation of urolithiasis, and indirect damage, in which the consequences of mitochondrial diseases in the urinary organs would be responsible for the lithiasis.

Discussion: There are various reports of patients who have been studied for urolithiasis in the context of mitochondrial diseases. Among them, the possible pathophysiological associations reported are collected.

Conclusion: Mitochondrial diseases are part of a group of pathologies whose characteristics have not been fully studied. They have a complex relationship with urolithiasis, despite not having been able to demonstrate causality. Studying them in this area would open a door to new treatments and prevention.