INTRODUCTION: Renal cell carcinoma (RCC) is one of the most prevalent cancers in kidney transplant recipients (KTR). The hereditary background of RCC in native kidneys has been determined, implicating its clinical importance. MATERIALS AND METHODS: This retrospective single-center pilot study aimed to identify a potential genetic predisposition to RCC of the transplanted kidney and outcome in KTR who underwent single kidney transplantation between January 2000 and December 2020 and manifested RCC of the transplanted kidney. Next-generation sequencing (NGS) based germline genetic analysis from peripheral blood-derived genomic DNA (gDNA) was performed in both the recipient and donor using a gene panel targeting 226 cancer predisposition genes. RESULTS: The calculated incidence of RCC of the transplanted kidney among 4146 KTR was 0.43%. In fifteen KTR and donors, NGS was performed. The mean KTR age at transplantation and the diagnosis of RCC was 50.3 years (median 54; 5-67 years) and 66 years (median 66; 24-79 years), respectively. The mean donor age at transplantation and graft age at RCC diagnosis was 39.7 years (median 42; 7-68 years) and 50.2 years (median 46; 20-83 years), respectively. The mean follow-up after RCC diagnosis was 47 months (median 39.1; 0-112 months). Papillary RCC was the most prevalent (n = 8), followed by clear cell RCC (n = 6) and unspecified RCC (n = 1). Thirteen RCCs were low-stage (pT1a/b) diseases, one was pT3, and one was of unknown stage. Most RCC was higher graded. No germline pathogenic cancer-predisposition variant was found in either KTR or donors except for several variants of uncertain significance. CONCLUSION: RCC of the transplanted kidney is very rare. Germline cancer-predisposition testing has identified several variants of uncertain significance, but no germline genetic predisposition to graft RCC in KTR. Further research is needed to assess the clinical relevance of genetic testing for cancer risk in KTR.

• MeSH
• dárci tkání MeSH
• dítě MeSH
• dospělí MeSH
• genetická predispozice k nemoci MeSH
• karcinom z renálních buněk * genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• nádory ledvin * genetika   MeSH
• pilotní projekty MeSH
• předškolní dítě MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• transplantace ledvin * škodlivé účinky   MeSH
• vysoce účinné nukleotidové sekvenování MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Frailty is one of the key syndromes in geriatric medicine and an important factor for post-transplant outcomes. We aimed to describe the prevalence of frailty and examine the correlates of frailty and depressive symptoms in older kidney transplant recipients (KTRs). METHODS: This cross-sectional study involved 112 kidney transplant recipients (KTRs) aged 70 and above. Frailty syndrome was assessed using the Fried frailty criteria, and patients were categorized as frail, pre-frail, or non-frail based on five frailty components: muscle weakness, slow walking speed, low physical activity, self-reported exhaustion, and unintentional weight loss. Depressive symptoms were measured using the 15-item Geriatric Depression Scale (GDS). The relationship between frailty and depressive symptoms was evaluated using multinomial logistic regression, with the three frailty categories as the dependent variable and the severity of depressive symptoms as the independent variable, while controlling for age, gender, renal graft function, and time since transplant surgery. RESULTS: The participants had a mean age of 73.3 ± 3.3 years, and 49% were female. The prevalence of frailty syndrome was 25% (n = 28), pre-frailty was 46% (n = 52), and 29% (n = 32) of the KTRs were non-frail. The mean score for depressive symptoms was 3.1 ± 2.4 points, with 18% scoring above the clinical depression cutoff. Depressive symptoms were positively correlated with frailty (r = .46, p < .001). Among the frailty components, self-reported exhaustion (r = .43, p < .001), slow walking speed (r = .26, p < .01), and low physical activity (r = .44, p < .001) were significantly positively correlated with depressive symptoms, while muscle strength (p = .068) and unintentional weight loss (p = .050) were not. A multinomial logistic regression adjusted for covariates indicated that, compared to being non-frail, each additional point on the GDS increased the odds of being pre-frail by 39% (odds ratio [OR] = 1.39, 95% confidence interval [CI] 1.01-1.96) and roughly doubled the odds of being frail (OR = 2.01, 95% CI 1.39-2.89). CONCLUSION: There is a strong association between frailty and depression in KTRs aged 70 years and older. Targeted detection has opened up a new avenue for collaboration between geriatricians and transplant nephrologists.

• Klíčová slova
• Depression, Frailty, Geriatrics, Kidney transplantation, Posttransplant,
• MeSH
• deprese * epidemiologie   psychologie   diagnóza   MeSH
• geriatrické hodnocení metody   MeSH
• geriatrie metody   trendy   MeSH
• křehkost * epidemiologie   diagnóza   psychologie   MeSH
• křehký senior psychologie   MeSH
• lidé MeSH
• nefrologové trendy   MeSH
• prevalence MeSH
• příjemce transplantátu psychologie   MeSH
• průřezové studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• transplantace ledvin * psychologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

INTRODUCTION: Cardiovascular disease (CVD) is the leading cause of morbidity and mortality in kidney transplant recipient (KTR). There is a dearth of standardized guidelines on optimal cardiovascular evaluation of transplant candidates. METHODS: This single-center cohort study aims to determine the effectiveness of our standardized risk-stratified pretransplant cardiovascular screening protocol, which includes coronary angiography (CAG), in identifying advanced CVD, the proper pretransplant management of which could lead to a reduction in the incidence of major cardiac events (MACE) in the early posttransplant period. RESULTS: Out of the total 776 KTR transplanted between 2017 and 2019, CAG was performed on 541 patients (69.7%), of whom 22.4% were found to have obstructive coronary artery disease (CAD). Asymptomatic obstructive CAD was observed in 70.2% of cases. In 73.6% of cases, CAG findings resulted in myocardial revascularization. MACE occurred in 5.6% (N = 44) of the 23 KTR with pretransplant CVD and 21 without pretransplant CVD. KTR with posttransplant MACE occurrence had significantly worse kidney graft function at the first year posttransplant (p = 0.00048) and worse patient survival rates (p = 0.0063) during the 3-year follow-up period compared with KTR without MACE. After adjustment, the independent significant factors for MACE were arrhythmia (HR 2.511, p = 0.02, 95% CI 1.158-5.444), pretransplant history of acute myocardial infarction (HR 0.201, p = 0.046, 95% CI 0.042-0.970), and pretransplant myocardial revascularization (HR 0.225, p = 0.045, 95% CI 0.052-0.939). CONCLUSION: Asymptomatic CVD is largely prevalent in KTR. Posttransplant MACE has a negative effect on grafts and patient outcomes. Further research is needed to assess the benefits of pretransplant myocardial revascularization in asymptomatic kidney transplant candidates.

• Klíčová slova
• cardiovascular complications, cardiovascular disease, cardiovascular evaluation, end-stage renal disease, kidney, major adverse cardiac event, transplantation,
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Genetic focal segmental glomerulosclerosis (FSGS) is caused by pathogenic variants in a broad spectrum of genes that have a variable representation based on subjects' ethnicity and/or age. The most frequently mutated autosomal recessive gene in FSGS is NPHS2. In this study, we analyzed the spectrum of NPHS2 variants and their associated phenotype in Czech adult FSGS patients. METHODS: A representative cohort of 234 adult patients with FSGS, derived from 225 families originating from all regions of Czechia, was analyzed by massively parallel sequencing. In this study, we focused on the comprehensive analysis of the NPHS2 gene. The histological classification of FSGS followed the Columbia classification. RESULTS: We detected seven (3%) cases bearing homozygous or compound heterozygous pathogenic NPHS2 variants. A single pathogenic variant c.868G > A (p.Val290Met) was found in the majority of NPHS2-positive cases (86%; 6 out of 7) in histologically confirmed instances of FSGS. Its allele frequency among unrelated NPHS2-associated FSGS patients was 50% (6/12), and Haplotype analysis predicted its origin to be a result of a founder effect. There is an identical V290M-related haplotype on all V290M alleles spanning a 0,7 Mb region flanking NPHS2 in Central European FSGS populations. The phenotype of the p.Val290Met NPHS2-associated FSGS demonstrated a later onset and a much milder course of the disease compared to other NPHS2 pathogenic variants associated with FSGS. The mean age of the FSGS diagnosis based on kidney biopsy evaluation was 31.2 ± 7.46 years. In 50% of all cases, the initial disease manifestation of proteinuria occurred only in adulthood, with 83% of these cases not presenting with edemas. One-third (33%) of the studied subjects progressed to ESRD (2 out of 6) at the mean age of 35.0 ± 2.82 years. CONCLUSIONS: We identified the most prevalent pathogenic variant, p.Val290Met, in the NPHS2 gene among Czech adult FSGS patients, which has arisen due to a founder effect in Central Europe. The documented milder course of the disease associated with this variant leads to the underdiagnosis in childhood. We established the histopathological features of the NPHS2-associated adult FSGS cases based on the Columbia classification. This might improve patient stratification and optimize their treatment.

• Klíčová slova
• NPHS2, end-stage renal disease, exome sequencing, focal segmental glomerulosclerosis, nephrotic syndrome, proteinuria,
• Publikační typ
• časopisecké články MeSH