Mitochondrial nephropathy is a genetic renal disease characterized by oxidative phosphorylation abnormalities in the mitochondrial respiratory chain in kidney cells, caused by pathogenic gene variants located on mitochondrial or nuclear DNA. Recent advancements in genetic diagnostic techniques and their widespread adoption have led to the identification of various genes associated with mitochondrial nephropathy. This review investigates the causative genes and clinicopathological features of mitochondrial nephropathy, including the various phenotypes and associated complications, and suggests potential pathogenic mechanisms.
View Article and Find Full Text PDFA 46-year-old man with a known case of Crohn's disease, which developed in August 2010, had been in remission since then with infliximab treatment. However, in November 2023, he developed photosensitivity, followed by joint pain and general fatigue in December. Blood tests revealed positive antinuclear antibodies, leading to a diagnosis of drug-induced lupus.
View Article and Find Full Text PDFBackground And Hypothesis: There are limited data on the long-term outcomes and risk factors for non-recovery after development of rituximab (RTX)-associated persistent hypogammaglobulinaemia among children with idiopathic nephrotic syndrome (NS).
Methods: A nationwide Japanese survey was conducted to determine the prognosis of patients with childhood-onset idiopathic NS who developed persistent hypogammaglobulinaemia after RTX administration. Specifically, predictors of IgG level recovery and risk factors for serious infection were examined.
There is considerable uncertainty regarding the safety and efficacy of biological therapies during pregnancy. We report a case of a 46-year-old female, diagnosed with ulcerative colitis over 30 years ago, who was successfully managed with infliximab and ustekinumab. She experienced no exacerbation of her condition during two pregnancies, demonstrating the safety of biologic therapy in maintaining disease remission during pregnancy.
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