Background/Objectives: Lupus nephritis (LN) is one of the most severe organ manifestations of systemic lupus erythematosus (SLE). Chronic kidney disease (CKD) and its progression into end-stage renal disease (ESRD) are serious complications in LN and the main cause of death in SLE. We aimed to investigate the prognostic factors of the progression of CKD and the development of ESRD in SLE patients. Methods: In our retrospective cohort study, we assessed the clinical and laboratory data of 127 patients who were diagnosed with LN between 1990 and 2022 and received regular follow-up care at our autoimmune centre. We compared class IV (diffuse) LN patients with non-class IV LN patients and assessed the differences in clinical and laboratory data of the patients, subdivided into complete, partial, and non-responders to therapy. Results: The prevalence of class IV LN is significantly higher in patients with CKD stage 3–5. Age above 42, class IV LN, Coombs positivity, and high chronicity index are prognostic factors for the development of CKD stage 3–5. On the other hand, anti-RNP and anti-SS-B antibody positivity and a high chronicity index are prognostic factors for the development of ESRD. The chronicity index, as well as the SLICC/ACR Damage Index (SDI) score, was significantly higher in non-responders compared to patients with complete remission. Conclusions: Based on our results, the progression of CKD into stage 3–5 or the development of ESRD should be expected at a chronicity index above 3.5 points. An early diagnosis, as well as aggressive, timely, and adequate treatment, is fundamental to prevent unfavourable outcomes of LN.
Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the DMD gene located on the X chromosome. Due to the X-linked recessive inheritance pattern, DMD most commonly affects males, who are generally diagnosed between the age of 3–5 years. Here we present an ultra-rare manifestation of DMD in a female patient. Cytogenetic examination showed that she has a t(X;10)(p21.1;p12.1) translocation, which turned out to affect the DMD gene with one of the breakpoints located in exon 54 (detected by genome sequencing). The X-inactivation test revealed skewed X-inactivation (ratio 99:1). Muscle histology and dystrophin immunohistochemistry showed severe dystrophic changes and highly reduced dystrophin expression, respectively. These results, in accordance with the clinical picture and a highly elevated serum CK, led to the diagnosis of DMD. In conclusion, although in very rare cases, DMD can manifest in female patients as well. In this case, a balanced X-autosome reciprocal translocation disrupts the DMD gene and skewed X-inactivation leads to the manifestation of the DMD phenotype.
This case study delves into the link, between exposure to Bisphenol A (BPA) and kidney issues filling a gap in human focused research found in studies. The individual, a 72-year man with a history of BPA exposure in a plastics manufacturing facility experienced a gradual decline in kidney function over 18 months. Medical tests showed kidney disease with a buildup of lipofuscin in renal tubular cells upon examination. This discovery suggests a connection between BPA exposure and kidney damage underscoring the need for investigation. The lack of human based evidence highlights the importance of research to understand the toxic effects of BPA on the kidneys. In addition, to its implications this case emphasizes the importance of improving safety protocols and raising awareness among healthcare professionals in relevant work environments to reduce potential health risks associated with BPA exposure.
Ischemia–reperfusion (I/R) strongly affects a graft’s function and survival and modulates microcirculatory and hemorheological parameters. However, the boundary between the reversibility and irreversibility of damage is unclear. This study compared the effects of renal I/R and ischemic preconditioning (IPC) to determine whether metabolic, microcirculatory, and micro-rheological changes are already detectable in the first hour of reperfusion. Wistar rats were divided into control (n = 6), I/R (n = 7) and IPC (n = 7) groups. In the ischemic groups the left kidney was subjected to 120 min of ischemia followed by 60 min of reperfusion. In the IPC group, a 3 × 5 min protocol was used prior to the manifest ischemia. Parenchymal microcirculation and renal artery blood flow were measured before ischemia (base) and during reperfusion (R-30, R-60). Hematological, micro-rheological parameters, electrolytes, and metabolites were tested at base and at R-60. Both ischemic groups showed micro-rheological impairment. An increase in potassium, lactate, and creatinine concentrations and a decrease in pH were observed. The blood flow of the IPC group deteriorated less, and microcirculation recordings indicated better values. The 120 min ischemia and the 60 min reperfusion resulted in micro-rheological and metabolic alterations, together with decreased renal blood flow and parenchymal microcirculation. Although the applied IPC protocol showed minor protective effects, its impact was limited in the first hour of reperfusion.