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 (NPHS2) gene variants in 50 members of four generations of a family with late-onset presentation of glomerular disease. Results and Discussion: The NPHS2 gene variants R229Q and/or R291W were detected in several individuals, and the phenotype of FSGS with progressive loss of renal function was observed in all the family members carrying both mutations simultaneously. Patients manifested ongoing proteinuria over the years and progressive loss of renal function, which in three women culminated in renal replacement therapy by the 4th decade of life. In two affected patients with nephrotic syndrome, remission was not reached by the use of corticosteroids and other immunosuppressive drugs. The R229Q variant was pathogenic only when trans-associated with specific mutations, as the R291W variant in this family. Conclusion: Coexistence of the two NPHS2 variants R229Q and R291W in compound heterozygosis was a determinant of the FSGS phenotype. The presence of these variants alone in heterozygosis did not cause significant proteinuria.
Inflammation is closely related to renal diseases. This is particularly true for renal diseases caused by infections as in viral diseases. In this review, we highlight the inflammatory mechanisms that underlie kidney dysfunction in SARS-CoV-2, human immunodeficiency (HIV), hepatitis C (HCV), and hepatitis B (HBV) infections. The pathophysiology of renal involvement in COVID-19 is complex, but kidney damage is frequent, and the prognosis is worse when it happens. Virus-like particles were demonstrated mostly in renal tubular epithelial cells and podocytes, which suggest that SARS-CoV-2 directly affects the kidneys. SARS-CoV-2 uses the angiotensin-converting enzyme 2 receptor, which is found in endothelial cells, to infect the human host cells. Critical patients with SARS-CoV-2-associated acute kidney injury (AKI) show an increase in inflammatory cytokines (IL-1β, IL-8, IFN-γ, TNF-α), known as cytokine storm that favors renal dysfunction by causing intrarenal inflammation, increased vascular permeability, volume depletion, thromboembolic events in microvasculature and persistent local inflammation. Besides AKI, SARS-CoV-2 can also cause glomerular disease, as other viral infections such as in HIV, HBV and HCV. HIV-infected patients present chronic inflammation that can lead to a number of renal diseases. Proinflammatory cytokines and TNF-induced apoptosis are some of the underlying mechanisms that may explain the virus-induced renal diseases that are here reviewed.
Purpose: To describe Brazilians’ behavior regarding face mask use and health literacy during the COVID-19 pandemic before and after the Ministry of Health of Brazil formal recommendation. Design: Cross-sectional surveys using a web-based questionnaire. Participants were recruited via snowball techniques. Setting: São Paulo state, the urban epicenter of the COVID-19 pandemic in Brazil at the time of the study. Participants: 2.203 clicks to the survey link and 1.223 surveys completed (55.5% response rate). However, only 1118 surveys were considered after the exclusion criteria (>18 years-old and consent). Measures: Demographics, educational status, COVID-19-related symptoms (headache, cough, sore throat, rhinorrhea, fever, asthenia, diarrhea, dyspnea, nausea, vomiting, vertigo, anosmia, and ageusia), and face mask use. Analysis: Self-reports of COVID-19 symptoms were categorized as dichotomous variables (Cohen’s h = 0.94). Pearson Chi-square test evaluated differences between T1 and T2 and logistic multiple regression analyzed odds-ratio for the presence of symptoms and independent variables. Results: Face mask use increased from 43.60% in T1 to 90.52% in T2 ( P < .0001) as the pandemic went on. Health literacy also changed within 2 weeks and people started to assume everybody should use face masks (62.93% in T1 vs 94.12% in T2; P < .0001; ES = 0.29) during outside activities (43.60% in T1 vs 90.52% in T2; P < .0001; ES = 0.39). Self-reports of face mask use were associated with fewer self-reports of COVID-19 symptoms (OR = 0.65, P = .01, 95% CI 0.48; 0.88). Conclusion: Face mask use was already high among educated Brazilians before the formal recommendation by the authorities. This may have contributed to fewer self-reports of COVID-19-related symptoms.
Objective and design: Several proteases have drawn attention as potential targets to control the SARS-CoV-2 infection (COVID-19), thus circulating enzymatic activity and RAS regulation in severe hospitalized patients still remain to be determined.Material or subjects: 164 patients with COVID-19-like symptoms were grouped according to the severity of symptoms (COVID-19 negative, mild, moderate and severe).Methods: Patients were subjected to biochemical analyzes and to enzymatic activities of ACE2, ACE, DPPIV, PREP and CAT L, evaluated in serum samples. One-way ANOVA and multivariate logistic regression analysis were used. Statistical signi cance was accepted at p<0.05.Results: We show a correlation among comorbidities, elevated C-reactive protein (CRP) levels and disease severity. Additionally, concomitant high levels of D-dimer and CRP could be as prognostic for severe conditions. Assays of enzymatic activities revealed that, according to disease severity, both ACE2 and CAT L were statistically increased, while ACE, DPPIV and PREP activities were signi cantly reduced.Notably, analysis of ACE2/ACE ratio suggest a possible imbalance of Ang II/Ang1-7 ratio in severe patients.Conclusion: Our ndings reveal the correlation between protease activity and the severity of COVID-19, in addition to highlighting the imbalance of ACE2/ACE ratio, predicting RAS dysregulation, closely related with a poor outcome of disease.
Introduction: Renal impairment in Fabry disease is widely known, but the occurrence of renal cysts as a manifestation of the disease should still be highlighted among radiologists and other physicians. Objectives:To compare the presence of parapelvic cysts between Fabry disease and other causes of chronic kidney disease (CKD). Methods:We evaluated demographic, clinical and laboratory data, as well as kidney ultrasound (US) findings in 91 patients with Fabry disease (n=37) and different glomerulopathies (n=54).Results: Both groups were similar in age (p = 0.29), gender (p = 0.98), eGFR (p = 0.10) and CKD stages (p = 0.19). Presence of parapelvic cysts differed significantly between those two groups (p < 0.0001 in right and left kidneys; Cohen's h = 1.15). When present, diameters of the parapelvic cysts were similar. Both groups had signs of CKD such as corticomedullary undifferentiation. None of the mutations we found in GLA gene was associated with a higher prevalence of parapelvic cysts. Conclusions:When compared to different glomerulopathies, parapelvic cysts were more frequently found in Fabry disease despite age, gender and stage of CKD. Parapelvic cysts on ultrasound can raise suspicion on Fabry disease in patients with kidney disease of unknown etiology especially in the context of a familial nephropathy.
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