Patients with chronic kidney disease (CKD) have various metabolic disorders caused by a chronic state of oxidative stress and inflammation, and recently, nuclear factor-erythroid 2-related factor 2 (Nrf2) has emerged as a factor that plays a significant role in cellular protection against oxidative stress and inflammation. This transcription factor when activated can regulate antioxidant and anti-inflammatory cellular responses leading to the expression of detoxifying enzymes. Studies have shown that Nrf2 expression can be modulated by several factors, such as bioactive compounds and physical exercise. In fact, exercise in CKD patients can bring many benefits; however, there are no studies correlating physical activity and Nrf2 expression in CKD patients. This review aims to discuss whether there is any evidence to justify a recommendation of physical exercise in CKD patients as a non-pharmacological option to activate the Nrf2 pathway.
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with ADTKD-UMOD, caused by a novel heterozygous mutation (c.163G>A, GGC→AGC, p.Gly55Ser) in the UMOD gene. Of 41 family members, 22 underwent genetic analysis, with 11 individuals found to have this mutation. Three affected individuals underwent hemodialysis, one peritoneal dialysis, and one patient received a kidney transplant from a family member later found to be genetically affected. Several younger individuals affected with the mutation were also identified. Clinical characteristics included a bland urinary sediment in all tested individuals and a kidney biopsy in one individual showing tubulointerstitial fibrosis. Unlike most other reported families with ADTKD-UMOD, neither gout nor hyperuricemia was found in affected individuals. In summary, we report a novel UMOD mutation in a Brazilian family with 11 affected members, and we discuss the importance of performing genetic testing in families with inherited kidney disease of unknown cause.
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