Thrombomodulin Gene Mutation and Associated Predisposing Factors in Familial Collapsing Glomerulopathy.

Collapsing glomerulopathy (CG) is a rare glomerular disease and its familial form is even rarer. CG and non-collapsing forms of focal segmental glomerulosclerosis may both be caused by pathogenic variants in the same genes, but there is less information on genetics of the former disease. We hypothesized that different hits (viral infection and genetic variants) may be involved in the development of a familial CG here described.

Diagnosis and management of ANCA-associated vasculitis.

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis consists of two main diseases, granulomatosis with polyangiitis and microscopic polyangiitis, and remains among the most devastating and potentially lethal forms of autoimmune inflammatory disease. Granulomatosis with polyangiitis and microscopic polyangiitis are characterised by a necrotising vasculitis that can involve almost any organ, and have generally been studied together. The diseases commonly affect the kidneys, lungs, upper respiratory tract, skin, eyes, and peripheral nerves.

Recurrence of membranous nephropathy after kidney transplantation: A multicenter retrospective cohort study.

Membranous nephropathy (MN) is a leading cause of kidney failure worldwide and frequently recurs after transplant. Available data originated from small retrospective cohort studies or registry analyses; therefore, uncertainties remain on risk factors for MN recurrence and response to therapy. Within the Post-Transplant Glomerular Disease Consortium, we conducted a retrospective multicenter cohort study examining the MN recurrence rate, risk factors, and response to treatment.

COVID-19 outcomes in patients with a history of immune-mediated glomerular diseases.

Introduction: Patients with immune-mediated glomerular diseases are considered at high risk for severe COVID-19 outcomes. However, conclusive evidence for this patient population is scarce.

Methods: We created a global registry and retrospectively collected clinical data of patients with COVID-19 and a previously diagnosed immune-mediated glomerular disease to characterize specific risk factors for severe COVID-19 outcomes.

Improvement of indirect immunofluorescence technique to detect antineutrophil cytoplasmic antibodies and its impact on test positivity rate.

The indirect immunofluorescence (IIF) technique for antineutrophil cytoplasmic antibodies (ANCA) detection is subject to substantial differences across laboratories. This study aimed to assess the impact of improvements in the IIF-ANCA technique on the positivity rate of ANCA tests. A cross-sectional study was performed with serum samples from patients with ANCA-associated vasculitis (AAV), autoimmune hepatitis (AIH), and ulcerative colitis (UC).

Development of an instrument to predict proliferative histological class in lupus nephritis based on clinical and laboratory data.

Objectives: To compare the correlations of histological class inferences based on clinical manifestations and laboratory tests between rheumatologists and nephrologists, to determine the associations of clinical and laboratory data with histological classes and to develop an instrument that can assist histological class identification in lupus nephritis (LN).

Methods: Retrospective study based on medical records of 80 systemic lupus erythematosus patients (SLICC criteria classification, 2012) who underwent kidney biopsy between 2010 and 2017. Two rheumatologists and two nephrologists received clinical and laboratory data and answered questions regarding which histological class was expected on kidney biopsy.

Recurrence of IgA Nephropathy after Kidney Transplantation in Adults.

Background And Objectives: In patients with kidney failure due to IgA nephropathy, IgA deposits can recur in a subsequent kidney transplant. The incidence, effect, and risk factors of IgA nephropathy recurrence is unclear, because most studies have been single center and sample sizes are relatively small.

Design, Setting, Participants, & Measurements: We performed a multicenter, international, retrospective study to determine the incidence, risk factors, and treatment response of recurrent IgA nephropathy after kidney transplantation.

A Single-center, Retrospective Study of Focal Segmental Glomerulosclerosis after Kidney Transplantation: Evolutive Analysis.

Background: Focal segmental glomerulosclerosis (FSGS) has a high recurrence rate after renal transplantation, which significantly impacts renal graft survival. However, the factors related to recurrence remain unclear.

Objective: This study aimed to analyze focal segmental recurrence and evolution of glomerulosclerosis after renal transplantation.

Cathepsin L in COVID-19: From Pharmacological Evidences to Genetics.

The coronavirus disease 2019 (COVID-19) pandemics is a challenge without precedent for the modern science. Acute Respiratory Discomfort Syndrome (ARDS) is the most common immunopathological event in SARS-CoV-2, SARS-CoV, and MERS-CoV infections. Fast lung deterioration results of cytokine storm determined by a robust immunological response leading to ARDS and multiple organ failure.

Effect of hearing aids on attention, memory, and auditory evoked potentials: A pragmatic, single-blinded, and randomised pilot clinical trial.

Purpose: To compare the effects of hearing aids and their technology levels (premium and basic) on attention, memory, brain response, and self-perceived benefit amongst individuals who were naïve to sound amplification.

Material And Methods: A pragmatic, single-blinded, and randomised pilot clinical trial in three-parallel arms according to hearing aids technology: (a) premium; (b) basic; and (c) no amplification hearing devices. Participants were ≥60 years old with mild-to-moderate sensorineural symmetric hearing loss and naïve to sound amplification.

Familial Focal Segmental Glomerulosclerosis With Late-Onset Presentation and R229Q/R291W Podocin Mutations.

Introduction: Pathogenic variants in different genes have been described as involved in the development of familial focal segmental glomerulosclerosis (FSGS). A more precise genotype-phenotype correlation would be helpful to better characterize the clinical and laboratorial manifestations of this disease, as well as response to treatment. We analyzed podocin () gene variants in 50 members of four generations of a family with late-onset presentation of glomerular disease.

Autoantibodies against phospholipase A2 receptor in Brazilian patients with glomerular diseases.

Background: Recently, great progress has been made in understanding the pathogenesis of membranous nephropathy (MN) with the discovery of autoantibodies (Abs) to M-type phospholipase A2 receptor (PLA2R) in serum and in immunocomplexes deposited in glomerulus in most adult patients with primary MN.

Objective: To evaluate the diagnostic performance of anti-PLA2R in Brazilian patients with MN, as well as to verify the possible association of anti-PLA2R serum levels with disease activity.

Methods: 117 patients with glomerular diseases confirmed by renal biopsy underwent routinely clinical and laboratory evaluation (serum creatinine and albumin, 24-h proteinuria, urinalysis, tests for etiological investigation) and determination of serum anti-PLA2R by ELISA.

Pre-exposure prophylaxis during the SARS-CoV-2 pandemic: can PrEP prevent COVID-19-related symptoms?

It has been speculated that some drugs can be used against SARS-CoV-2. As for antiretrovirals, the follow-up of pre-exposure prophylaxis (PrEP) users during the coronavirus disease 2019 (COVID-19) outbreak may help to understand the potential protective effect of PrEP against SARS-CoV-2. We aimed to identify associations between oral PrEP use and COVID-19-related symptoms self-reporting.

Corrigendum: Autoantibodies in renal diseases - clinical significance and recent developments in serological detection.

[This corrects the article on p. 221 in vol. 6, PMID: 26029207.

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Background: Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompting doubts about the diagnosis and treatment. The α-Galactosidase A enzymatic activity in dried blood spot (DBS) samples are widely used for screening purposes; however, even when values below the normal are found, new tests are required to confirm the diagnosis.

Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family.

Background: Fabry disease (FD) is a rare X-linked storage disorder resulting from the deficient activity of the lysosomal hydrolase α-galactosidase A (α-Gal A). Here we describe a 23-year-old man with FD possessing a novel mutation in the GLA gene, the evaluation of his family, and the functional characterization of the novel variant.

Methods: Two generations of a family were screened for FD by clinical symptoms and low enzymatic activity.

Clinical Presentation, Outcomes, and Treatment of Membranous Nephropathy after Transplantation.

There are scarce data about clinical presentation and outcomes of posttransplant membranous nephropathy (MN), and few reports include a large number of patients. This was a retrospective cohort including adult patients with posttransplant MN transplanted between 1983 and 2015 in a single center (n=41). Only patients with histological diagnosis of MN in kidney grafts were included.

Clinical Features, Treatment and Prognostic Factors of Post-Transplant Immunoglobulin A Nephropathy.

BACKGROUND Initially described as a relatively benign condition, recent studies report graft loss in up to 50% of the patients with post-transplant IgA nephropathy. There is no evidence for the best therapeutic approach, and prognostic factors remain to be elucidated. MATERIAL AND METHODS Single center retrospective analysis of patients >12 years old, with clinically relevant post-transplant IgA nephropathy (proteinuria ≥1.

Pregnancy as an early stress test for cardiovascular and kidney disease diagnosis.

Objectives: Pregnancy is a cardiometabolic and renal stress test for women, primarily when associated with hypertension syndrome, which can have deleterious effects in the long term. We undertook this study to make a long-term evaluation on these women.

Study Design: A retrospective cohort study was conducted to investigate voluntary women who had pregnancy-induced hypertension syndrome versus normal pregnancy.

It is time to review concepts on renal involvement in leprosy: pre- and post-treatment evaluation of 189 patients.

Background: Functional and morphological renal lesions have been widely described in leprosy for decades. Nevertheless few studies have assessed renal function pre- and during treatment after the advent of multidrug therapy (MDT).

Methods: This is a prospective study involving 189 consecutive patients, with all forms of leprosy (Ridley-Jopling scale).

Autoantibodies in renal diseases - clinical significance and recent developments in serological detection.

Autoimmune dysfunctions are the "bête noire" in a range of debilitating nephropathies. Autoimmune-mediated damage to the kidneys can be triggered by autoantibodies directed against specific proteins or renal structures, for example, the phospholipase A2 receptor or the glomerular basement membrane, resulting in glomerular diseases such as primary membranous nephropathy or Goodpasture's disease. Moreover, secondary damage to the kidney can be part of the wide-reaching effects of systemic autoimmune diseases such as vasculitis or systemic lupus erythematosus (SLE) - the latter counts lupus nephritis among its most severe manifestations.

[Podocyturia in pregnant women with chronic hypertension may predict kidney injury?].

Purpose: To evaluate the presence of podocyturia in chronic hypertensive pregnant women in the third trimester of pregnancy and its possible association with renal disease.

Methods: This was an observational study of a convenience sample of 38 chronic hypertensive pregnant women. The podocytes were labeled by the indirect immunofluorescence technique with anti-podocin and diamidino-phenylindole (DAPI).