Background: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from lack of alpha-galactosidase A (AGALA) activity in lysosomes. Objective: In this multicenter study, we aimed to evaluate the prevalence of FD in renal transplant (Tx) recipients in Turkey. We also screened dialysis patients as a control group. Methods: All Tx and dialysis patients were screened regardless of the presence of a primary disease. We measured the AGALA activity in all male patients as initial analysis. Mutation analysis was performed in male patients with decreased AGALA activity and in female patients as the initial diagnostic assay. Results: We screened 5,657 patients. A total of 17 mutations were identified. No significant difference was observed between the groups regarding the prevalence of patients with mutation. We found FD even in patients with presumed primary kidney diseases. Seventy-one relatives were analyzed and mutation was detected in 43 of them. We detected a patient with a new, unknown mutation (p.Cys223) in the GLA gene. Conclusions: There are important implications of the screening. First, detection of the undiagnosed patients leads to starting appropriate therapies for these patients. Second, the transmission of the disease to future generations may be prevented by prenatal screening after appropriate genetic counseling. In conclusion, we suggest screening of kidney Tx candidates for FD, regardless of etiologies of chronic kidney disease.
A 56-year-old male admitted to the hospital for generalized weakness and fever. He was treated in hospital for 10 days due to COVID-19. He did not receive any immunosuppressive therapy during admission. One day after his discharge he experienced back pain and received analgesic therapy for 10 days. About one month later he experienced severe back pain and gross hematuria. He was admitted to hospital with acute kidney injury and new-onset lower extremity muscle weakness. His renal biopsy revealed IgA nephropathy and thoracic/cervical/lumbar-spine imaging showed an epidural abscess. This is a unique case report of a patient developing an epidural abscess and acute kidney injury together as a serious complication of COVID-19 infection.
Icodextrin may be used as an alternative to glucose as the osmotic agent in peritoneal dialysis with ultrafiltration failure. In general, icodextrin is known to be safe and well tolerated, but it can also cause hypersensitivity reactions such as skin rashes. Allergic rashes are generally defined as erythematous, itchy and maculopapular, visible over the trunk and the extremities. When a rash occurs, it generally develops early in therapy, is self-limited, and resolves without sequelae after the discontinuation of icodextrin. Although the safety and efficacy of icodextrin peritoneal dialysis solution is well documented, clinicians should be aware of the possibility of severe adverse cutaneous reactions to it. We report the case of a 23-year-old female who developed a skin rash following the use of icodextrin.
Objective Blood collection tubes (BCTs) related interferences in test results can adversely influence on patient outcomes. We compared test results of samples in BD (Becton-Dickinson, Franklin Lakes, NJ, USA) Vacutainer Serum Separator Tubes (SST), BD Vacutainer® Barricor™ Plasma BCTs (Barricor™) and BD Vacutainer® Rapid Serum Tube (RST). Materials and methods Thirty-two samples were obtained from patients after the hemodialysis were included in this study. Eight routine clinical chemistry parameters (AST, creatinin, urea, PTH, glucose, LDH, K, calcium) were measured on Roche Cobas Analyzer (Roche Diagnostics, North America). The results of samples obtained from RST and Barricor™ were compared with SST as reference tubes. Results Results of Glucose, K, Urea, PTH from the SST and Barricor™ were statistically significantly different (p = 0.017, p < 0.001, p = 0.011, p < 0.001, respectively). In addition, results of PTH, LDH from SST and RST were significantly different (p < 0.001, p = 0.019). However, statistical significance of test results was not clinically significant for the biochemical parameters. Conclusion Working with Barricor™ may provide not just a fast, clean, high-quality plasma samples, safety results, but also time and cost-effectivity. Therefore, these types of tubes, which are less costly than other BCTs, may be preferred to obtain plasma.
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