Lipoprotein glomerulopathy (LPG) is an ultrarare kidney disorder caused by pathogenic variants in the APOE gene. Although kidney biopsy presents typical findings, such as dilated capillary loops containing lipoprotein thrombi, definitive diagnosis requires molecular genetic analysis of APOE. There is no specific treatment for the disease, and, in the scenario of a disorder with glomerular lipoprotein deposition, it may recur after kidney transplantation.
View Article and Find Full Text PDFLancet Reg Health Am
March 2025
Background: Risk scores are essential tools for implementing cardiovascular disease (CVD) prevention. Validating risk scores considering regional diversities and disparities is critical for reducing the burden of CVD on global morbidity and mortality. We aimed to validate two cardiovascular risk scores (laboratory and non-laboratory-based) to predict major adverse cardiovascular events in the Brazilian cohort of the PURE study.
View Article and Find Full Text PDFPLoS One
March 2025
[This corrects the article DOI: 10.1371/journal.pone.
View Article and Find Full Text PDFVaccine X
January 2025
[This corrects the article DOI: 10.1016/j.jvacx.
View Article and Find Full Text PDFBackground: Kidney biopsy registries are valuable tools for guiding clinical practice and developing health policies. In 2021, the Brazilian Society of Nephrology (SBN) created the Brazilian Kidney Biopsy Registry (BKBR). This is the first BKBR report, presenting patient data from 2021.
View Article and Find Full Text PDFJ Bras Nefrol
February 2025
Atypical hemolytic uremic syndrome (aHUS) is a rare cause of thrombotic microangiopathy (TMA) caused by the dysregulation of the alternative complement pathway. The diagnosis of TMA is made clinically by the triad: microangiopathic hemolytic anemia, thrombocytopenia, and organ damage (mainly acute kidney injury). The heterogeneity of clinical manifestation and the lack of a gold standard diagnostic test makes the precise diagnosis of aHUS a challenging process that may impact patient management.
View Article and Find Full Text PDFIntroduction: The profile of genetic and nongenetic factors associated with progression to kidney failure (KF) in steroid-resistant nephrotic syndrome (SRNS) is largely unknown in admixed populations.
Methods: A total of 101 pediatric patients with primary SRNS were genetically assessed targeting Mendelian causes and status with a 62-NS-gene panel or whole exome sequencing, as well as genetic ancestry. Variant pathogenicity was evaluated using the American College Medical of Genetics and Genomics (ACMG) criteria.
Am J Nephrol
June 2025
Vaccine X
December 2024
Background: While COVID-19 vaccination has been shown to reduce the risk of severe illness, its impact on the occurrence of persistent symptoms in patients with mild Omicron infection remains uncertain. Our objective was to investigate whether COVID-19 vaccination reduces the occurrence of persistent COVID-19-related symptoms 3 months after mild Omicron infection.
Methods: Multicenter prospective cohort study was conducted in Brazil between January 2022 and June 2023 when Omicron was predominant.
Key Points: A large comprehensive analysis of patients undergoing KRT within Brazil's Public Health System from 2015 to 2023. We reported an increase in the age at which dialysis began and a decline in the adoption of peritoneal dialysis over the years. We showed better hemodialysis adequacy as measured by single-pool Kt/V.
View Article and Find Full Text PDFPLoS One
March 2024
Atherosclerotic Cardiovascular Disease (ASCVD) represents the leading cause of death worldwide, and individual screening should be based on behavioral, metabolic, and genetic profile derived from data collected in large population-based studies. Due to the polygenic nature of ASCVD, we aimed to assess the association of genomics with ASCVD risk and its impact on the occurrence of acute myocardial infarction, stroke, or peripheral artery thrombotic-ischemic events at population level. CardioVascular Genes (CV-GENES) is a nationwide, multicenter, 1:1 case-control study of 3,734 patients in Brazil.
View Article and Find Full Text PDFFront Immunol
February 2024
With the coverage of COVID-19 vaccination, it has been possible to observe the potential side effects of SARS-CoV-2 vaccines, with the most common ones being fever, myalgia, headache, and fatigue. However, an association has been observed between new and recurrent kidney injuries, mainly glomerulonephritis and lupus nephritis associated with ANCA, with the Pfizer-BioNTech, Moderna, Sinovac, and AstraZeneca vaccines, although the relationship between them is not clear. We report a case of ANCA-related vasculitis and lupus glomerulonephritis after the second dose of the AstraZeneca vaccine.
View Article and Find Full Text PDFVaccines (Basel)
January 2024
Large-scale COVID-19 vaccination has been one of the most effective strategies to control the spread of the SARS-CoV-2 virus. However, several cases of glomerular injury related to the COVID-19 vaccine have been described in the literature. We report two cases of a tip lesion variant of focal segmental glomerulosclerosis (FSGS), which presented with significant proteinuria and improved after immunosuppression.
View Article and Find Full Text PDFFront Cardiovasc Med
February 2023
Background: Breakpoint cluster region-Abelson gene (BCR-ABL) tyrosine kinase inhibitors (TKIs) have revolutionized the treatment of patients with chronic myeloid leukemia (CML). However, concern has arisen about the cardiac safety profile of these drugs.
Objectives: This study aims to compare long-term risks of adverse cardiovascular and cerebrovascular events (ACE), heart failure or left ventricular ejection fraction (LVEF) < 50%, and venous thromboembolic events (VTE) in patients with CML treated with BCR-ABL TKIs, using data from a large multinational network.
Primary Effusion Lymphoma is an extremely rare and aggressive subtype of B-cell lymphoma, accounting for only <1% of all cases of this neoplasm. It has a unique clinical presentation because it has a predilection for appearing in body cavities, such as the pleural space, pericardium and peritoneum. It mainly affects immunocompromised individuals and may also affect individuals in the Mediterranean region and in areas endemic for human herpesvirus 8 (HHV-8).
View Article and Find Full Text PDFThe respiratory tract is the main infection site for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), resulting in many admissions to intensive care centers in several countries. However, in addition to lung involvement, kidney injury caused by the novel coronavirus has proven to be a significant factor related to high morbidity and mortality, alarming experts worldwide. The number of deaths has drastically reduced with the advent of large-scale immunization, highlighting the importance of vaccination as the best way to combat the pandemic.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2022
Background: Systemic amyloidosis is caused by the deposition of misfolded protein aggregates in tissues, leading to progressive organ dysfunction and death. Epidemiological studies originate predominantly from high-income countries, with few data from Latin America. Due to the non-specific clinical manifestations, diagnosing amyloidosis is often challenging and patients experience a long journey and delay in diagnosis.
View Article and Find Full Text PDFFront Med (Lausanne)
September 2022
Lupus nephritis is one of the most serious and frequent manifestations of systemic lupus erythematosus. It usually presents in the first years of the disease, which suspicion should be raised in cases of elevated serum creatinine, presence of proteinuria above 500 mg/day or active urinary sediment, in the absence of other apparent causes such as urinary tract infection and use of nephrotoxic drugs. In most cases, it affects the glomerulus, and its presentation is rare in the form of isolated tubulo-interstitial disease.
View Article and Find Full Text PDFBackground: Insulin resistance and/or hyperinsulinemia are closely linked to adiposity, metabolic syndrome (MetS) and prolonged inflammatory processes.
Methods: We retrospectively analyzed 1,018 adult individuals with a mean age of 46 years (74% male) and classified them as: Metabolically normal: without any of the five criteria of the International Diabetes Federation (IDF) used for the diagnosis of MetS, plus normal fasting insulin (Men < 8 mU/L, Women < 10 mU/L); Level 1 MetS: with one or two IDF criteria, plus hyperinsulinemia (Men: ≥ 8 mU/L), and Women: ≥ 10 mU/L); Level 2 MetS: with three or more IDF criteria, plus hyperinsulinemia.
Results: The mean values for fasting insulinemia in metabolically normal individuals was 4.
Clin Kidney J
August 2022
Background: Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease. Therefore, studies involving large samples are scarce, making registries powerful tools to evaluate cases. We present herein the first analysis of the Brazilian aHUS Registry (BRaHUS).
View Article and Find Full Text PDFMycophenolate rapidly substituted azathioprine (AZA) in transplant immunosuppression regimens since the 1990s, when early clinical trials indicated better outcomes, although opposite results were also observed. However, none of these trials used the well-established optimization methods for AZA dosing, namely, thiopurine methyltransferase pharmacogenetics combined with monitoring of the thiopurine metabolites 6-thioguanine nucleotides (6-TGN) and 6-methylmercaptopurine (6-MMP). Resistance to optimize AZA therapy remains today in transplant therapy, despite the fact that thiopurine metabolite testing is being used by other medical disciplines with evident improvement in clinical results.
View Article and Find Full Text PDF