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1.
Diagn Cytopathol ; 52(3): 171-182, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38124281

RESUMO

BACKGROUND: Genomic profiling using next-generation sequencing (NGS) is fundamental for driving prognostic and therapy in cancer. Formalin-fixed paraffin embedded (FFPE) tissue is the widely used material, whereas non-FFPE may represent an alternative. However, studies comparing the NGS performance of non-FFPE materials to FFPE are still lacking in the literature. The objective of this study was to characterize in non-FFPE preparations the nucleic acid yield and NGS performance on both a capture-based and an amplicon-based NGS platform. NGS quality metrics obtained from non-FFPE preparations were compared to FFPE. METHODS: We analyzed the cellularity and nucleic acid yield in 111 tumors from non-FFPE preparations. In addition, comprehensive hybrid capture panel sequencing metrics obtained from DNA and RNA libraries were compared between independent non-FFPE and FFPE samples. A paired comparison between non-FFPE and FFPE samples was performed to analyze concordance in mutant allele detection using an amplicon panel. RESULTS: The mean target coverage from DNA libraries was 2× higher in non-FFPE samples than in FFPE. The detection of exogenous DNA was 2.5× higher in non-FFPE than in FFPE. Conversely, a lower performance was observed in non-FFPE RNA libraries in comparison to FFPE DNA libraries with no impact in minimum standard cutoffs. The variant allele detection in non-FFPE was found to be comparable to that of FFPE tumor samples in matched samples. CONCLUSIONS: Non-FFPE was demonstrated to be a suitable material for DNA and RNA library preparations using a comprehensive NGS panel. This is the first study reporting library quality metrics according to the TSO500 analysis pipeline.


Assuntos
Formaldeído , Neoplasias , Humanos , Inclusão em Parafina , Fixação de Tecidos , Neoplasias/diagnóstico , Neoplasias/genética , DNA/genética , Sequenciamento de Nucleotídeos em Larga Escala , RNA
2.
Cancer Med ; 12(11): 12402-12412, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37184216

RESUMO

BACKGROUND: Patients with advanced hepatocellular carcinoma (HCC) and poor liver function lack effective systemic therapies. Low-energy electromagnetic fields (EMFs) can influence cell biological processes via non-thermal effects and may represent a new treatment option. METHODS: This single-site feasibility trial enrolled patients with advanced HCC, Child-Pugh A and B, Eastern Cooperative Oncology Group 0-2. Patients underwent 90-min amplitude-modulated EMF exposure procedures every 2-4 weeks, using the AutEMdev (Autem Therapeutics). Patients could also receive standard care. The primary endpoints were safety and the identification of hemodynamic variability patterns. Exploratory endpoints included health-related quality of life (HRQoL), overall survival (OS). and objective response rate (ORR) using RECIST v1.1. RESULTS: Sixty-six patients with advanced HCC received 539 AutEMdev procedures (median follow-up, 30 months). No serious adverse events occurred during procedures. Self-limiting grade 1 somnolence occurred in 78.7% of patients. Hemodynamic variability during EMF exposure was associated with specific amplitude-modulation frequencies. HRQoL was maintained or improved among patients remaining on treatment. Median OS was 11.3 months (95% confidence interval [CI]: 6.0, 16.6) overall (16.0 months [95% CI: 4.4, 27.6] and 12.0 months [6.4, 17.6] for combination therapy and monotherapy, respectively). ORR was 24.3% (32% and 17% for combination therapy and monotherapy, respectively). CONCLUSION: AutEMdev EMF exposure has an excellent safety profile in patients with advanced HCC. Hemodynamic alterations at personalized frequencies may represent a surrogate of anti-tumor efficacy. NCT01686412.


Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Carcinoma Hepatocelular/terapia , Carcinoma Hepatocelular/patologia , Campos Eletromagnéticos , Estudos de Viabilidade , Neoplasias Hepáticas/terapia , Neoplasias Hepáticas/patologia , Qualidade de Vida
3.
SAGE Open Med Case Rep ; 10: 2050313X221100407, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35619747

RESUMO

Chromosomal rearrangements involving the c-ros oncogene 1 (ROS1) gene define a subset of non-small cell lung cancers highly sensitive to small-molecule tyrosine kinase inhibitors. However, little is known about the impact of different fusion partners on tyrosine kinase inhibitor efficacy. We herein describe a case of a 26-year-old never-smoker patient from southern Africa with metastatic lung adenocarcinoma driven by SLC12A2-ROS1 fusion, who had a pronounced and durable response to crizotinib. The present case underscores the importance of pursuing actionable alterations in patients with similar clinical and epidemiological characteristics. In addition, provides the second report of crizotinib activity against lung malignancies harboring the unique SLC12A2-ROS1 fusion and highlights the importance of a deeper understanding of molecular alterations in underrepresented subgroups of patients to tailor the decision-making in daily practice.

4.
Case Rep Oncol ; 15(1): 170-175, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35431856

RESUMO

Werner's syndrome is caused by the inactivation of both WRN alleles and is characterized by premature aging and increased risk of neoplasms, especially those of mesenchymal origins, such as sarcomas. Given the characteristic genomic instability, patients with this syndrome are more susceptible to develop toxicities when exposed to cytotoxic agents, such as alkylators and anthracyclines. The impact of the monoallelic WRN mutation on treatment-associated toxicities is poorly understood. Here, we report a patient with locally advanced dedifferentiated liposarcoma of the retroperitoneum harboring a heterozygous germline inactivation mutation in the WRN gene, who was treated with a classic regimen of ifosfamide and doxorubicin and developed exacerbated and prolonged hematological and renal toxicities.

5.
Lung Cancer ; 154: 146-150, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33676359

RESUMO

OBJECTIVES: Gene fusions are becoming more evident in cancer scenario for either being the driver alterations, or for the great therapeutic target potential in many cases. Our aim was to characterize the BRD4-NOTCH3 fusion correlating with clinical features, and to determine the frequency of this fusion in the oncological population. MATERIAL AND METHODS: One patient diagnosed with lung adenocarcinoma at Hospital Sírio-Libanês (Brazil) was included. Foundation Medicine database was searched for all BRD4-NOTCH3 fusions among 233,804 specimens. RESULTS: A 76-year-old male patient was diagnosed with lung adenocarcinoma. Molecular assessments demonstrated negative ALK and EGFR, with PD-L1 expression positive by 60 %. He was treated with first line chemotherapy and second line immunotherapy. Subsequent treatments resume re-exposures to chemotherapy with poor responses. A next-generation sequencing (NGS) based assay was performed in the tumor biopsy, revealing mainly mutation in STK11, microsatellite stability, TMB-intermediate, MYC amplification and a BRD4-NOTCH3 fusion. The breakpoint analysis of this fusion indicates that BRD4 active domains are preserved, suggesting that it maintained DNA binding activity, as well as its capacity to be halt by BET inhibitors. Foundation Medicine database was searched for all BRD4-NOTCH3 fusions among more than 230-thousand specimens and it was found in 87 new cases in a rate of 0.04 % occurrence in solid tumors, predominately in gynecological cancers. The same rate was found when we analyzed a different dataset. CONCLUSION: In conclusion, this is the first report of the BRD4-NOTCH3 gene fusion associated with clinical characterization and, although rare, the occurrence of this fusion is constant in different population. Our data suggest that this fusion has great potential to targeted-therapy.


Assuntos
Adenocarcinoma de Pulmão , Neoplasias Pulmonares , Idoso , Brasil , Proteínas de Ciclo Celular/genética , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/genética , Masculino , Mutação , Proteínas Nucleares/genética , Receptor Notch3/genética , Fatores de Transcrição/genética
6.
Eur J Radiol Open ; 8: 100325, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33521170

RESUMO

BACKGROUND: Granulomatous Lung Diseases (GLD) encompasses a wide range of infectious and non-infectious conditions characterized by chronic inflammatory response. However, different GLD may share similar imaging findings. In this context, the purpose of this study was to outline the etiological profile and their imaging features in patients with GLD who underwent lung biopsy. METHODS: Patients with granulomatous lesions in lung biopsies and previous chest CT performed from 2014 to 2017 at our institution had imaging data reviewed by three blinded radiologists. The imaging features were analyzed according to the Fleischner Society glossary. Categorical data were represented by absolute (n) and relative (%) frequency. The contingency matrices were analyzed by Pearson's Chi-square test. Interreader agreement was assessed by calculating the intraclass correlation coefficient, using kappa (κ) statistic. RESULTS: Thirty-eight of 75 (50.7%) patients were women with a mean age of 59 ± 39 years. Infection was the most common cause of GLD (47/75, 62.7%) and Histoplasma capsulatum (27/75, 36%) was the most prevalent etiology. Nodular pattern was the most common imaging feature in histoplasmosis cases (25/27, 92.6%), whereas it occurred in half of cases (24/48) of GLD of other causes (p < 0.05). Among patients with tuberculosis, the second etiology of GLD in our study population, the most common imaging pattern was centrilobular micronodules (3/7, 42.9%), significantly more frequent than in other causes of GLD (6/68, 8.8%). Interreader agreement in detecting imaging features was almost perfect (κ = 0.88-1.00), except the nodular pattern, which had substantial agreement (κ = 0.73). CONCLUSIONS: In our study population, the main etiologies found in patients with granulomatous disease who underwent lung biopsy were fungal or mycobacterial disease, specially histoplasmosis and tuberculosis, and nodular pattern with focal distribution was the most common imaging finding which was detected with substantial interreader agreement.

8.
PLoS Negl Trop Dis ; 14(10): e0008582, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33119586

RESUMO

BACKGROUND: Schistosoma mansoni schistosomiasis (SM) remains a public health problem in Brazil. Renal involvement is classically manifested as a glomerulopathy, most often membranoproliferative glomerulonephritis or focal and segmental glomerulosclerosis. We report a case of collapsing glomerulopathy (CG) associated with SM and high-risk APOL1 genotype (HRG). CASE REPORT: A 35-year-old male was admitted for hypertension and an eight-month history of lower-limb edema, foamy urine, and increased abdominal girth. He had a recent diagnosis of hepatosplenic SM, treated with praziquantel, without clinical improvement. Laboratory tests revealed serum creatinine 1.89mg/dL, blood urea nitrogen (BUN) 24mg/dL, albumin 1.9g/dL, cholesterol 531mg/dL, low-density lipoprotein 426mg/dL, platelets 115000/mm3, normal C3/C4, antinuclear antibody (ANA), rheumatoid factor (RF), and antineutrophil cytoplasmic antibodies (ANCA), negative serologies for hepatitis C virus (HCV) and human immunodeficiency virus (HIV), HBsAg negative and AntiHBc IgG positive, no hematuria or leukocyturia, 24 hour proteinuria 6.56g and negative serum and urinary immunofixation. Kidney biopsy established the diagnosis of CG. A treatment with prednisone was started without therapeutic response, progressing to end-stage kidney disease 19 months later. Molecular genetics investigation revealed an HRG. CONCLUSIONS: This is the first report of CG associated with SM in the setting of an HRG. This case highlights the two-hit model as a mechanism for CG pathogenesis, where the high-risk APOL1 genotype exerts a susceptibility role and SM infection serves as a trigger to CG.


Assuntos
Apolipoproteína L1/genética , Falência Renal Crônica/complicações , Glomérulos Renais/patologia , Esquistossomose mansoni/complicações , Esquistossomose mansoni/patologia , Adulto , Animais , Brasil , Humanos , Masculino , Schistosoma mansoni , Esquistossomose mansoni/genética
9.
Kidney Blood Press Res ; 45(3): 431-441, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32299081

RESUMO

BACKGROUND AND AIM: Immunoglobulin A nephropathy (IgAN) is the most common primary glomerulopathy. The Oxford classification was recently updated to include crescents as markers of poor prognosis. The aim of this study was to evaluate the impact of cellular crescents on the prognosis of patients with IgAN in Brazil. METHODS: This was a single-centre retrospective analysis of medical records and renal biopsies in patients with IgAN. The renal biopsy findings were classified according to the revised Oxford classification: mesangial hypercellularity, endocapillary hypercellularity (E), segmental glomerulosclerosis (S), tubular atrophy or interstitial fibrosis (T), and crescent formation (C). We evaluated a composite outcome (progression to end-stage renal disease or creatinine doubling). We performed analyses between the patients with crescents in the renal biopsy specimen (C1/C2 group) and those without such crescents (C0 group). RESULTS: We evaluated 111 patients, of whom 72 (65.0%) were women, 80 (72.0%) self-identified as White, 73 (65.6%) were hypertensive, and 95 (85.6%) had haematuria. The distribution of patients according to cellular crescentic lesions was: C0, 80 (72%); C1, 27 (24.4%); C2, 4 (3.6%). The composite outcome was observed in 33 (29.72%) of the 111 patients. In comparison with the C0 group, the C1/C2 group had higher proportions of patients with hypertension (p = 0.04), haematuria (p = 0.03), worse serum creatinine (p = 0.0007), and worse estimated glomerular filtration rate (p = 0.0007). The C1/C2 group also had higher proportions of patients in whom the biopsy specimen was classified as E1 (p = 0.009), S1 (p = 0.001), or T1/T2 (p = 0.03), In addition, the mean follow-up period was shorter in the C1/C2 group (p < 0.0001). Furthermore, the composite outcome was observed in a greater proportion of patients and in a shorter length of time in the C1/C2 group than in the C0 group (p = 0.002 and p = 0.0014, respectively). In a Cox regression analysis, the independent risk factors for the composite outcome had Oxford classifications of S1, T1/T2, and C1/C2. CONCLUSION: Oxford classification findings of S1, T1/T2, or C1/C2 were independent risk factors for the composite outcome, corroborating previous studies.


Assuntos
Glomerulonefrite por IGA/fisiopatologia , Rim/patologia , Adulto , Brasil , Feminino , Humanos , Masculino , Prognóstico , Estudos Retrospectivos
10.
BMC Nephrol ; 21(1): 56, 2020 02 24.
Artigo em Inglês | MEDLINE | ID: mdl-32093686

RESUMO

BACKGROUND: Sickle cell disease (SCD) is a highly prevalent genetic disease worldwide. In the natural evolution of SCD, glomerular lesions can develop, presenting histopathological patterns of segmental or focal membranoproliferative glomerulosclerosis, with or without thrombotic microangiopathy. We report two cases of acute post-infectious glomerulonephritis (APIGN), with atypical presentations, in patients with SCD. CASE PRESENTATION: Case 1: An 18-year-old female with SCD presented with a 21-day history of progressive oedema, accompanied by dyspnoea, productive cough, fever, and chest pain. Blood tests showed the following: haemoglobin 6.1 g/dl; leucocytes 18,820 cells/mm3; and creatinine 0.49 mg/dl. A urine sample evidenced leucocyturia and haematuria. The 24-h proteinuria was 8.99 g, serum albumin level was 1.2 g/dl, low serum C3 levels and high levels of anti-streptolysin O. Renal biopsy was consistent with APIGN. The patient was treated with diuretic and anti-proteinuric agents, subsequently evolving to reversal of the renal alterations. Case 2: A 12-year-old male with SCD presented with a 20-day history of a non-productive cough and progressive oedema, together with hypertension. The serum creatinine concentration was 0.48 mg/dl. A urine sample evidenced leukocyturia and haematuria. The 24-h proteinuria was 12.5 g, and the serum albumin level was 2.6 g/dl. The levels of C3 and C4 were normal. Renal biopsy revealed APIGN. The patient was treated with diuretic and anti-proteinuric agents, subsequently evolving reversal of the renal alterations. CONCLUSIONS: The presentation of the two cases reported here are not typical of SCD-related kidney injury. Analysis of the renal biopsy specimens elucidated the diagnosis, affecting the prognosis, because that of APIGN is highly favourable, unlike that of nephrotic syndrome associated with SCD glomerulopathy.


Assuntos
Anemia Falciforme/complicações , Glomerulonefrite/etiologia , Rim/patologia , Síndrome Nefrótica/etiologia , Adolescente , Criança , Creatinina/sangue , Feminino , Taxa de Filtração Glomerular , Glomerulonefrite/diagnóstico , Hematúria/etiologia , Humanos , Masculino , Proteinúria/etiologia
11.
BMC Infect Dis ; 19(1): 911, 2019 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-31664917

RESUMO

BACKGROUND: Cyst infection is a prevalent complication in autosomal dominant polycystic kidney disease (ADPKD) patients, however therapeutic and diagnostic approaches towards this condition remain unclear. The confirmation of a likely episode of cyst infection by isolating the pathogenic microorganism in a clinical scenario is possible only in the minority of cases. The available antimicrobial treatment guidelines, therefore, might not be appropriate to some patients. CASE PRESENTATION: We describe two unique cases of kidney cyst infection by Candida albicans, a condition that has not been previously described in literature. Both cases presented clear risk factors for Candida spp. infection. However, since there was no initial indication of cyst aspiration and culture, antifungal therapy was not immediately started and empirical treatment was initiated as recommended by the current guidelines. Antifungal treatment was instituted in both cases along the clinical course, according to their specificities. CONCLUSION: Our report highlights the possibility of Candida spp. cyst infection. Failure of clinical improvement with antibiotics should raise the suspicion of a fungal infection. Identification of infected cysts should be pursued in such cases, particularly with PET-CT, and when technically possible followed by cyst aspiration and culture to guide treatment. Risk factors for this condition, such as Candida spp. colonization, previous antimicrobial therapy, hemodialysis, necrotizing pancreatitis, gastrointestinal/hepatobiliary surgical procedure, central venous catheter, total parenteral nutrition, diabetes mellitus and immunodeficiency (neutropenia < 500 neutrophils/mL, hematologic malignancy, chemotherapy, immunosuppressant drugs), should be also considered accepted criteria for empirical antifungal therapy.


Assuntos
Candida albicans , Candidíase/diagnóstico por imagem , Candidíase/etiologia , Rim Policístico Autossômico Dominante/complicações , Adulto , Antibacterianos/uso terapêutico , Antifúngicos/uso terapêutico , Candidíase/tratamento farmacológico , Candidíase/microbiologia , Cistos/diagnóstico por imagem , Cistos/microbiologia , Cistos/terapia , Drenagem , Evolução Fatal , Feminino , Fluconazol/uso terapêutico , Humanos , Masculino , Nefrectomia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Diálise Renal , Insuficiência Renal/terapia , Resultado do Tratamento
12.
J Med Case Rep ; 13(1): 279, 2019 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-31492174

RESUMO

BACKGROUND: NUT midline carcinoma is a rare and aggressive subset of squamous cell carcinoma, which is characterized by the translocation of nuclear protein in testis gene that is mostly fused with bromodomain and extraterminal family proteins. We describe here the first Brazilian case of NUT midline carcinoma with BRD4-NUT fusion detected in a next-generation sequencing panel and we present the clinical evolution of this patient. CASE PRESENTATION: A 42-year-old Caucasian man was diagnosed with poorly differentiated squamous cell carcinoma of the left maxillary sinus, with negative in situ hybridization for Epstein-Barr encoding region and human papillomavirus genotyping. He received induction therapy, chemoradiotherapy with weekly systemic chemotherapy, and, concurrently, weekly intra-arterial chemotherapy. New imaging evaluation, 1 month after the end of the last treatment, revealed a good partial response in the primary lesion. However, positron emission tomography-computed tomography showed multiple suspicious lesions in his bones and lungs, which were histologically confirmed. He died exactly 2 months after metastatic disease was diagnosed. CONCLUSIONS: NUT midline carcinoma is usually very aggressive. Currently, there is no standard of care for treatment of NUT midline carcinoma. The definitive diagnosis must be by demonstration of NUTM1 rearrangement. Immunohistochemical staining of greater than 50% of tumor nuclei on formalin-fixed paraffin-embedded tissue using the monoclonal rabbit antibody to NUT (clone C52B1), has a specificity of 100%, and sensitivity of 87% for the diagnosis of NUT midline carcinoma. Our case is the first Brazilian case of NUT midline carcinoma with BRD4-NUT fusion.


Assuntos
Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Proteínas Nucleares/genética , Proteínas de Fusão Oncogênica/genética , Adulto , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/genética , Neoplasias Ósseas/secundário , Brasil , Evolução Fatal , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/secundário , Masculino , Neoplasias do Seio Maxilar/diagnóstico por imagem , Neoplasias do Seio Maxilar/genética , Neoplasias do Seio Maxilar/patologia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada
13.
Leuk Res Rep ; 10: 41-43, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30225192

RESUMO

Renal involvement in Hodgkin lymphoma (HL) is rare, although extralymphatic disease is usually found. Acute kidney injury is a recognized presentation of non-Hodgkin lymphoma, with bilateral kidney involvement, promptly requiring specific treatment. Regarding to HL, this manifestation is extremely rare and lacks pathologic description and management experiences. Herein, we describe a case of HL with atypical presentation as well as its management, current evaluation by PET-scan and histologic findings. This case report highlights clinical presentation and a successful experience on managing these cases. Moreover, it is important to drive biologic insights for understanding of kidney infiltration mechanism in HL.

14.
Mol Immunol ; 101: 507-513, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30144701

RESUMO

Cisplatin is a chemotherapy used to treat different types of cancer, such as testicular, bladder and head and neck. Physical exercise has been shown to improve cancer therapy and recently, it was demonstrated to be able to diminish side effects such as acute kidney injury (AKI), a common side effect in cisplatin treatment. In both cases, the modulation of inflammatory cytokines seems to be one of the mechanisms, but little is known about the immune cells in this process. Here, we investigated the role of CD4 + T cells in the AKI protection by physical exercise. We subjected C57Bl6 mice to long-term physical exercise (EX) before cisplatin treatment. Sedentary groups were used as control (CT). We confirmed that physical exercise decreased AKI by evaluating creatinine and Kim-1 levels, in the serum and kidney respectively. Analyzing the organs weight, we noticed a decrease in sedentary (CIS) and exercised (CIS-EX) cisplatin treated groups. Epididymal and brown adipose tissue weight were decreased in cisplatin treated subjects in comparison to untreated groups, as well as liver and spleen. We then investigated the profile of CD4 + T cells in the spleen and we observed increased levels of Tregs and CD4+CD25+ cells in CIS group, while CIS-EX presented similar amounts as control groups. Analyzing the kidney lymph nodes, we noticed a decrease of CD4+ cells in both CIS and CIS-EX group. However, a more activated phenotype (CD69+ and CD25+) was observed in CIS groups in comparison to CIS-EX group, as well as the presence of Tregs. We then investigated the production of cytokines by these cells and no difference among the groups was observed in cytokines production in splenic CD4 + T cells. However, a clear increase in TNF and IL-10 production was observed in CD4 + T cells from lymph nodes, while CIS-EX group presented similar levels as the control groups. We confirmed that physical exercise was able to diminish cisplatin-induced AKI with concomitant decrease in CD4 + T cell activation.


Assuntos
Injúria Renal Aguda/induzido quimicamente , Injúria Renal Aguda/imunologia , Linfócitos T CD4-Positivos/imunologia , Cisplatino/efeitos adversos , Ativação Linfocitária/imunologia , Condicionamento Físico Animal , Injúria Renal Aguda/prevenção & controle , Animais , Citocinas/biossíntese , Linfonodos/patologia , Masculino , Camundongos Endogâmicos C57BL , Fenótipo , Baço/patologia
15.
J. bras. nefrol ; 39(4): 447-453, Oct.-Dec. 2017. tab
Artigo em Inglês | LILACS | ID: biblio-893789

RESUMO

Abstract Background: New classification for membranoproliferative glomerulonephritis has been proposed in the literature. The aim of this study was to compare the clinical, biochemical, etiology and renal biopsy findings of these patients grouped by immunofluorescence as proposed by the new classification. Methods: Patients with renal biopsy-proven membranoproliferative glomerulonephritis unrelated to systemic lupus erythematosus, diagnosed between 1999 and 2014. The patients were divided according to immunofluorescence: Immunoglobulin positive group, C3 positive only and negative immunofluorescence group. Results: We evaluated 92 patients, the majority of which were in the immunoglobulin positive group. Infectious diseases, hepatitis C virus and schistosomiasis, were the most frequent etiology. A negative immunofluorescence group had more vascular involvement in renal biopsy compare with others groups. Conclusions: The only difference between the groups was higher vascular involvement in renal biopsy in negative immunofluorescence group. These new classification was satisfactory for the finding of etiology in one part of the cases.


Resumo Introdução: Uma nova classificação para glomerulonefrite membranoproliferativa foi proposta na literatura. O objetivo deste estudo foi comparar os achados clínicos, bioquímicos, etiológicos e da biópsia renal desses pacientes agrupados por imunofluorescência, conforme proposto pela nova classificação. Métodos: Pacientes com glomerulonefrite membranoproliferativa comprovada por biópsia renal, não relacionada ao lúpus eritematoso sistêmico, diagnosticados entre 1999 e 2014. Os pacientes foram divididos de acordo com a imunofluorescência: grupo positivo por imunoglobulina, grupo positivo por C3 apenas e grupo com imunofluorescência negativa. Resultados: avaliamos 92 pacientes, a maioria dos quais estava no grupo de imunoglobulina positiva. Doenças infecciosas, o vírus da hepatite C e a esquistossomose, foram as etiologias mais frequentes. Um grupo com imunofluorescência negativa apresentou maior comprometimento vascular na biópsia renal quando comparado com os outros grupos. Conclusões: a única diferença entre os grupos foi o maior envolvimento vascular na biópsia renal no grupo de imunofluorescência negativa. Esta nova classificação foi satisfatória para a descoberta de etiologia em uma parte dos casos.


Assuntos
Humanos , Masculino , Feminino , Adulto , Glomerulonefrite Membranoproliferativa/diagnóstico , Glomerulonefrite Membranoproliferativa/patologia , Glomerulonefrite Membranoproliferativa/classificação , Estudos Retrospectivos , Imunofluorescência
16.
Nephron ; 136(2): 158-162, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28245485

RESUMO

Alport syndrome (AS) is a disorder of collagen IV, a component of glomerular basement membrane (GBM). The association of AS and immunocomplex nephropathies is uncommon. This is a case of a 37-year-old woman with family history of X-linked AS, including 4 affected sons. This patient developed full-blown nephrotic syndrome along a 3-month period, a presentation not consistent with AS progression. This scenario suggested an alternative diagnosis. A kidney biopsy was therefore performed, showing membranous nephropathy (MN) in addition to GBM structural alterations compatible with AS. Whole exome sequencing also confirmed the diagnosis of X-linked AS, revealing a heterozygous pathogenic mutation in COL4A5. While a negative serum anti-phospholipase A2 receptor did not rule out a primary form of MN, it was also uncertain whether positive serologic tests for syphilis could represent a secondary factor. It is currently unknown whether this unusual association represents AS susceptibility to immunocomplex-mediated diseases or simply an association of 2 disorders.


Assuntos
Glomerulonefrite Membranosa/complicações , Nefrite Hereditária/complicações , Adulto , Colágeno Tipo IV/genética , Progressão da Doença , Suscetibilidade a Doenças , Exoma , Feminino , Glomerulonefrite Membranosa/genética , Glomerulonefrite Membranosa/patologia , Humanos , Rim/patologia , Mutação , Nefrite Hereditária/genética , Nefrite Hereditária/patologia , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/genética , Linhagem
17.
J Bras Nefrol ; 39(4): 447-453, 2017.
Artigo em Inglês, Português | MEDLINE | ID: mdl-29319772

RESUMO

BACKGROUND: New classification for membranoproliferative glomerulonephritis has been proposed in the literature. The aim of this study was to compare the clinical, biochemical, etiology and renal biopsy findings of these patients grouped by immunofluorescence as proposed by the new classification. METHODS: Patients with renal biopsy-proven membranoproliferative glomerulonephritis unrelated to systemic lupus erythematosus, diagnosed between 1999 and 2014. The patients were divided according to immunofluorescence: Immunoglobulin positive group, C3 positive only and negative immunofluorescence group. RESULTS: We evaluated 92 patients, the majority of which were in the immunoglobulin positive group. Infectious diseases, hepatitis C virus and schistosomiasis, were the most frequent etiology. A negative immunofluorescence group had more vascular involvement in renal biopsy compare with others groups. CONCLUSIONS: The only difference between the groups was higher vascular involvement in renal biopsy in negative immunofluorescence group. These new classification was satisfactory for the finding of etiology in one part of the cases.


Assuntos
Glomerulonefrite Membranoproliferativa/diagnóstico , Glomerulonefrite Membranoproliferativa/patologia , Adulto , Feminino , Imunofluorescência , Glomerulonefrite Membranoproliferativa/classificação , Humanos , Masculino , Estudos Retrospectivos
20.
J Bras Nefrol ; 37(1): 121-6, 2015.
Artigo em Português | MEDLINE | ID: mdl-25923759

RESUMO

OBJECTIVE: To describe the clinical and laboratory profile of focal segmental glomerulosclerosis (FSGS) of the collapsing subtype in association with infection by parvovirus B19 (PVB19). CASE REPORT: Female patient, 37 years old, mulatto, developed pharyngalgia and fever with partial improvement after penicillin. After one week we observed reduced urinary output and lower limb edema. Smoker, family and personal history negative for hypertension, diabetes or kidney disease. Patient presented with olyguria, hypertension and edema, also hypochromic microcytic hypoproliferative anemia, nephritic range proteinuria, microscopic hematuria and renal dysfunction. All rheumatologic investigation, HIV and hepatitis serology were negative. Unremarkable renal ultrasound. PCR positive for PVB19 in bone marrow aspirate and blood and renal biopsy conclusive of collapsing FSGS subtype. Spontaneous remission occurred within two weeks of the profile. The blood PVB19 PCR was repeated within a month and resulted negative. This finding demonstrated PVB19 acute infection or viral reactivation in association with collapsing FSGS. CONCLUSION: There is demonstrated the temporal association of PVB19 viremia and collapsing FSGS, due primary infection or viral reactivation. The association of collapsing FSGS and PVB19 is described in the literature, demonstrating virus presence in kidney tissue, but the real relationship of virus in the pathogenesis of this glomerulopathy remains unclear.


Assuntos
Glomerulosclerose Segmentar e Focal/classificação , Glomerulosclerose Segmentar e Focal/virologia , Infecções por Parvoviridae/complicações , Parvovirus B19 Humano , Adulto , Feminino , Humanos
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