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Background/Objectives: Fabry disease (FD) is a genetic lysosomal storage disease caused by a pathogenic variant in GLA gene coding for a functional alpha-galactosidase A enzyme whose disfunction leads to globotriaosylceramide (Gb3) accumulation in cells, which results in multiple organ disorders. The aim of this study was to identify mutations associated with Fabry disease among 829 kidney transplant recipients and to investigate the correlation between the factors such as age, dialysis vintage, eGFR, proteinuria and corticosteroid dose and the deviations in alpha-galactosidase A and lyso-Gb3 levels. Methods: Dry blood spot samples were collected for genetic analysis. The GLA genetic variants were analysed by an amplicon-based next-generation sequencing approach in all female patients and in male patients with reduced alpha-galactosidase A levels. Alpha-galactosidase A and Lyso-Gb3 were not determined in female patients. Pearson's correlation coefficient was used to assess the relationship between the above-mentioned factors with the activity of alpha-galactosidase A and Lyso-Gb3. Results: Genetic testing was performed in 476 patients, all female patients (334), 69 male patients with decreased level of alpha-galactosidase A activity, one male patient with alpha-galactosidase A levels above the quantification limit and 72 male patients with no interpretable results of alpha-galactosidase A activity due to preanalytical error. In 3 (0.4%) male patients, hemizygous mutations associated with Fabry disease were found, and those were c.427G>A p.(Ala143Thr), c.1181T>C p.(Leu394Pro), and c.352C>T p.(Arg118Cys). The dose of corticosteroid therapy seemed to be positively correlated to alpha-galactosidase A activity and negatively to Lyso-Gb3 levels in blood. Conclusions: Genetic testing of individuals with chronic kidney disease and reporting of genetic variants associated with the Fabry phenotype are important to improve the overall knowledge of the disease. Further research is needed to define factors influencing levels of alpha-galactosidase A and Lyso-Gb3. [ABSTRACT FROM AUTHOR]

Multisystem inflammatory syndrome after COVID-19 (MIS-A) is a consequence of an abnormal inflammatory response after COVID-19 resolution. Current criteria for diagnosis consist of the involvement of several organ systems. We present two cases, one in an immunosuppressed kidney transplant recipient and one in a patient on hemodialysis currently not on immunosuppression. The different clinical presentations and disease development may indicate that the current criteria for MIS-A diagnosis may be inadequate for immunosuppressed patients, as chronic immunosuppression may alter disease presentation. Both patients were treated with corticosteroids and intravenous immunoglobulins, and in both cases the treatment resulted in a prompt resolution of symptoms and stabilization of inflammatory parameters. [ABSTRACT FROM AUTHOR]

Introduction. Despite their potential benefits, mineralocorticoid receptor antagonists are rarely used in kidney transplant recipients due to the fear of complications. We aim to describe epidemiological, clinical and laboratory characteristics, treatment, and outcomes of kidney transplant patients treated with eplerenone. Methods. Kidney transplant recipients who received eplerenone were included in this single-center retrospective study. Serum electrolytes, uric acid, estimated glomerular filtration rate (eGFR), and proteinuria were recorded. Results. Ten kidney transplant recipients (6 male) received eplerenone for treatment of heart failure. With the median follow-up of 16 months (range 6-78 months), nine were alive with the functioning kidney allograft. Eplerenone was well tolerated. Only one patient developed mildly elevated potassium and one developed severe symptomatic hyponatremia, requiring hospitalization. The glomerular filtration rate decreased after eplerenone's introduction from 47.5(42-54) to 40 (35-48) ml/min/1.73m2 at three months (p<0.01) and remained stable in follow-up. Proteinuria decreased from 303 mg/24h to 185 mg/24h without a statistically significant difference. Eplerenone did not influence cyclosporine or tacrolimus trough levels. Uric acid increased after the introduction of eplerenone, requiring increased doses of allopurinol. Conclusions. Eplerenone may be used with caution in kidney transplant recipients. Careful monitoring of all electrolytes and not only of potassium is mandatory. In our cohort, eplerenone increased uric acid levels. Further studies are required to elucidate the clinical benefits and safety of eplerenone in this patient population. [ABSTRACT FROM AUTHOR]

Breast cancer is the 5th leading malignant cause of death worldwide. The mechanism behind its development is multifactorial and involves a combination of hormonal, genetic, environmental, and age-related factors affecting DNA damage. Due to their chronic immunosuppressive therapy, kidney transplant recipients are exposed to an increased risk of carcinogenesis. We present an unusual case of an 80-year-old kidney transplant recipient who developed an invasive breast cancer 8 years after cadaveric kidney transplantation. Chronic immunosuppressive therapy at the time of diagnosis included cyclosporine (100mg/day), mycophenolate mofetil (1000mg/day), and prednisolone (5mg/day). A core needle biopsy was performed after the ultrasound examination. The patient was treated with modified radical mastectomy and axillary lymph node resection. The pathohistological report confirmed invasive stage T3N1Mx breast carcinoma with metastatic lymph node involvement. The results of the pathohistological examination demonstrated the presence of breast carcinoma, characterized by positive expression of estrogen receptors (ER) and progesterone receptors (PR), while human epidermal growth factor receptor 2 (HER2) had a negative status. The patient began adjuvant hormone therapy with tamoxifen 10 mg 2x1 per day. He was switched from cyclosporine to an mTOR inhibitor. To date, the patient has been consistently monitored per scheduled follow-up appointments and continues to remain in remission without any further complications. Due to decreased awareness and minimal degree of suspicion, more than 40% of patients with male breast cancer (MBC) first present at the advanced stage, which typically takes the form of a lump or nipple inversion. As a result, MBC patients experience worse prognosis than their female counterparts. This case report demonstrates the importance of thorough and regular clinical examinations of male kidney transplant recipients. Although MBC is rare, the possibility of its existence should be emphasized, especially in a vulnerable population such as kidney transplant recipients. [ABSTRACT FROM AUTHOR]

Introduction. Anti-CMV immunoglobulin (CMV-HIG) contains antibodies against various infective pathogens and not only against the cytomegalovirus (CMV), thus possibly mimicking the convalescent plasma. Methods. A retrospective analysis concerning the practice of CMV-HIG off-label use during acute COVID- 19 in kidney transplant recipients (KTR). Results. From March 2020 to August 2022, 403 KTR (59.8% male) who developed COVID-19 were eligible for investigation. 151(44.4%) patients required hospitalization, and eighteen (5,6%) mechanical ventilation. Thirty-four (8.4%) patients received CMVHIG. Two patients had CMV reactivation and received CMVHIG 2 ml/kg in five doses. Others had hypogammaglobulinemia which was an additional off-label indication for using CMVHIG during acute COVID-19. 22 patients (6.5%) died, 4 of them from the CMVHIG group. Conclusion. A correction of hypogammaglobulinemia, potential remodeling of the immunological response, and CMV reactivation during acute infection, may justify the use of CMVHIG during acute COVID-19. [ABSTRACT FROM AUTHOR]

Introduction. Our stady aimed toinvestigate the rate of dermatologic disorders in kidney transplant recipients during the COVID-19 pandemic. Methods. We performed a retrospective observational single-center cohort study including all adult renal transplant recipients with a functioning kidney allograft and who have recovered from the SARS CoV-2 infection. The study was conducted at a tertiary center in Croatia from March 2020 to August 2022. The study included 321 patients (57% were male). Data were obtained retrospectively from hospital charts and records, while selfreported cosmetic problems were reported prospectively. Results. The study included 321 patients (57% were male). Overall, 59 patients (18%) reported or were diagnosed with dermatological conditions. Eleven patients presented with facial eruptions that were most pronounced in the area covered by the mask, one patient developed similar changes in the skin of her hands. Hair loss was reported by twenty female patients, with the hair loss persisting in three patients. Six patients were diagnosed with skin cancer in the areas covered by facial masks. Three had squamous cell skin cancer, two were diagnosed with basal cell skin cancer, and one had a neuroendocrine skin tumor on the chin. Conclusion. Dermatologic problems are frequent in kidney transplant recipients recovered from acute COVID- 19. Besides cosmetic problems, skin malignancies may be diagnosed with a delay. Kidney transplant recipients should be advised to regularly self-examine their skin for potential skin cancer with dermatologic evaluation when necessary. [ABSTRACT FROM AUTHOR]

Introduction. Resistant cytomegalovirus (CMV) in kidney transplant recipients represents an emerging issue. Prolonged hospitalization, increased utilization of resources, limited treatment options, and high toxicity of available treatment make the resistant disease a significant burden for the patients and a challenge for the treating physician. Methods. This is a narrative review of the epidemiology, diagnosis and treatment options regarding resistant cytomegalovirus. Discussion. Significant research has identified the main resistance mechanisms to the guideline-recommended treatment of resistant disease and for salvage and novel treatment options. The high toxicity of high dose ganciclovir and foscarnet pose an independent risk of treatment failure and graft loss. Several antiviral drugs and cytomegalovirus-specific T cells are being evaluated for their role in treating resistant cytomegalovirus disease. Conclusion. Resistant CMV infection should be promptly recognized in kidney transplant recipients. Novel therapeutic approaches seem promising. [ABSTRACT FROM AUTHOR]

COVID-19 disease mainly causes mild upper respiretory diseases in infected people, with possible development of complications in 20% of the cases. The virus's predominance for bronchial epithelial tissue and reactive immune response to the virus can result in an overall immune reaction that can trigger latent infections such as cytomegalovirus (CMV) infection or cause bacterial, fungal, or viral coinfections. CMV infection can predispose to other viral respiratory infections, and chronic CMV infection state has been associated with impaired humoral immune response. An abundance of CMV IgG antibodies rate has even been correlated with a higher mortality rate. This state can occur due to underlying immunocompromised status (e.g., undergone transplantation or autoimmune disease) or comorbidity-relations susceptible to the development of complications (such as greater age and underlying chronic diseases), even in a post-COVID-19 state. [ABSTRACT FROM AUTHOR]

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