A Novel Monoallelic Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.

Introduction: Monoallelic variants in the gene encoding asparagine-linked glycosylation protein 5 homolog (ALG5) have been recently shown to disrupt polycystin-1 (PC1) maturation and trafficking via underglycosylation, causing an autosomal dominant polycystic kidney disease-like (ADPKD-like) phenotype and interstitial fibrosis. In this report, we present clinical, genetic, histopathologic, and protein structure and functional correlates of a new ALG5 variant, p.R79W, that we identified in 2 distant genetically related Irish families displaying an atypical late-onset ADPKD phenotype combined with tubulointerstitial damage.

Frailty and depressive symptoms in older kidney transplant recipients: opportunities for collaboration between transplant nephrologists and geriatricians.

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.

Standardized risk-stratified cardiac assessment and early posttransplant cardiovascular complications in kidney transplant recipients.

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.

The most common founder pathogenic variant c.868G > A (p.Val290Met) in the gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.

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 . In this study, we analyzed the spectrum of variants and their associated phenotype in Czech adult FSGS patients.

[Cardiovascular disease and kidney transplantation].

Compared to general population, patients with chronic kidney disease (CKD) exhibit high prevalence of cardiovascular disease (CVD) that increases with a stage of CKD. Traditional and non-traditional risk factors associated with CKD contribute to accelerated atherosclerosis leading to CVD. CVD represents the main cause of morbidity and mortality in CKD population.

The impact of frailty syndrome on humoral response to SARS-CoV-2 mRNA vaccines in older kidney transplant recipients.

Purpose: Advanced age is associated with an impaired humoral immune response to SARS-CoV-2 mRNA vaccination in kidney transplant recipients (KTR). The mechanisms are, however, poorly understood. Frailty syndrome assessment may determine the most vulnerable population.

Humoral response to SARS-CoV-2 is well preserved and symptom dependent in kidney transplant recipients.

Data on the immune response to SARS-CoV-2 in kidney transplant recipients are scarce. Thus, we conducted a single-center observational study to assess the anti-SARS-CoV-2 IgG seroprevalence in outpatient kidney transplant recipients (KTR; n = 1037) and healthcare workers (HCW; n = 512) during the second wave of the COVID-19 pandemic in fall 2020 and evaluated the clinical variables affecting antibody levels. Antibodies against S1 and S2 subunit of SARS-CoV-2 were evaluated using immunochemiluminescent assay (cut off 9.