A5061346563- Renal Diseases and Glomerulopathies
- Dialysis and Renal Disease Management
- Central Venous Catheters and Hemodialysis
- Birth, Development, and Health
- Diet and metabolism studies
- Renal and related cancers
- Chronic Kidney Disease and Diabetes
- Biomedical Research and Pathophysiology
- Organ Donation and Transplantation
- Fungal Infections and Studies
- Autoimmune Bullous Skin Diseases
- Blood Coagulation and Thrombosis Mechanisms
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Acute Kidney Injury Research
- Public Health in Brazil
- Diet, Metabolism, and Disease
- Clinical Nutrition and Gastroenterology
- Pediatric Urology and Nephrology Studies
- Renal Transplantation Outcomes and Treatments
- Genetic and Kidney Cyst Diseases
- Vascular anomalies and interventions
- Chronic Lymphocytic Leukemia Research
- Pregnancy and Medication Impact
- Polyomavirus and related diseases
- Bartonella species infections research
Universidade Estadual de Campinas (UNICAMP)
2012-2025
Brazilian Medical Association
2014
Hospital de Clínicas da Unicamp
2000-2012
Pontifícia Universidade Católica de Campinas
2008
Nephrotic syndrome is traditionally classified on the basis of response to standard steroid treatment. Mutations in more than 24 genes have been associated with nephrotic children, although great majority steroid-resistant cases attributed mutations three main genes: NPHS1, NPHS2 and WT1. The aims this study were identify these frequently reported as mutated characterize each variation using different silico prediction algorithms order understand their biological functions. We performed...
Frasier syndrome (FS) is characterized by gonadal dysgenesis and nephropathy. It caused specific mutations in the Wilms' tumor suppressor gene (WT1) located 11p23. Patients with 46,XY karyotype present normal female genitalia streak gonads, have higher risk of tumor, mainly, gonadoblastoma. Therefore, elective bilateral gonadectomy indicated. Nephropathy FS consists nephrotic (NS) proteinuria that begins early childhood progressively increases age, mainly due to nonspecific focal segmental...
Mutations in the vitamin D receptor (VDR) are associated to hereditary 1,25-dihydroxivitamin D-resistant rickets. The objectives of this work are: search for mutations VDR and analyze their functional consequences four Brazilian children presented with rickets alopecia. coding region was amplified by PCR e direct sequenced. We identified three mutations: two patients had same mutation exon 7 at aminoacid position 259 (p.Q259E); one patient a 8 codon 319 (p.G319V) another 3 leading truncated...
Nephrotic syndrome (NS) is a state of hypercoagulability. In this paper, we sought to determine risk factors for the occurrence deep vein thrombosis (DVT) in children with NS. The “with DVT” group included patients decompensated NS and diagnosed DVT. “without same patients, six eighteen months prior episode DVT, but without Different prediction variables were analyzed. odds ratio DVT triglyceride levels ≥300 mg/dL was 3.14 (95% CI 1.14 8.64). For hematocrit ≥43% presence infection or severe...
Autosomal recessive mutations in NPHS1 gene are a common cause of congenital nephrotic syndrome (CNS). The disorder is characterized by massive proteinuria that manifests utero or the neonatal period during first 3 months life. encodes nephrin, member immunoglobulin family cell adhesion molecules and main protein expressed at renal slit diaphragm. Currently, there approximately 250 described distributed among all nephrin domains. objective this study was to perform analysis patients with...
To identify risk factors for chronic kidney disease progression in Brazilian children and to evaluate the interactions between factors. This was a multicenter prospective cohort São Paulo, involving 209 with CKD stages 3–4. The study outcome included: (a) death, (b) start of replacement therapy, (c) eGFR decrease >50% during followup. Thirteen were tested using univariate regression models, followed by multivariable Cox models. terms interaction variables showing significant association then...
The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11β-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations on gene affect activity leading an cortisol, which causes its inappropriate access receptor. Therefore, will bind human maps chromosome 16q22 and consists five exons encoding protein 405 amino acids. We present here...
The Brazilian collaborative registry for pediatric renal transplantation began in 2004 as a multicenter initiative aimed at analyzing, reporting, and disseminating the results of Brazil. Data from all transplants performed January to May 2018 13 participating centers were analyzed. A total 2744 thirteen centers. median age was 12.2 years, with majority being male recipients (56%). main underlying diseases CAKUT (40.5%) glomerulopathy (28%). 1981 (72%) grafts deceased donors (DD). Graft...
Pediatric nephrotic syndrome (PNS) is a major medical problem without known cure nor clear treatment regimen and has been the focus of intense investigation. Its most severe manifestion steroid-resistant (SRNS), second frequent cause pediatric end-stage kidney disease (ESKD).1Stokman M.F. Renkema K.Y. Giles R.H. et al.The expanding phenotypic spectra diseases: insights from genetic studies.Nat Rev Nephrol. 2016; 12: 472-483Crossref PubMed Scopus (39) Google Scholar New concepts about PNS...
To describe the case of a child with paracoccidioidomycosis who presented hypercalcemia multiple osteolytic lesions.A 6-year-old boy was admitted one-month history fever and hepatosplenomegaly. On admission, he looked sick, pale, had disseminated lymphadenopathy The laboratory findings included anemia (hemoglobin = 6.8 g/dl), eosinophilia (1,222/mm3), thrombocytopenia (102,000/mm3), hypoalbuminemia (serum albumin 2.2 g/dl). Paracoccidioides brasiliensis identified in bone marrow examination....
Hypercalcemia is a rare condition in childhood; the most common causes are primary hyperparathyroidism, malignancy, prolonged immobilisation, thyrotoxicosis, thiazide diuretic, supplements containing calcium, milk-alkali syndrome, vitamin D intoxication, infections and idiopathic. We present three cases of severe hypercalcemia unusual children. The first patient had high fever, poor general condition, weight loss myalgia. Extensive preliminary investigation did not define etiology, but...
Objective To develop a clinical score for the early identification of chronic kidney disease (CKD) in children and adolescents. The diagnosis CKD childhood allows adoption measures to slow progression disease, thereby reducing morbidity mortality. Nevertheless, is often made too late proper patient management. Study design We preformed case-control study multicenter Brazilian sample 752 pediatric patients; cases (n = 376) were patients with median estimated GFR 37 (IQR 22 57) ml/min/1.73 m2....
Acute Kidney Injury (AKI) in the Intensive Care Unit (ICU) have concepts of diagnosis and management water balance as their main point evaluation. In our ICU, from 2004 to 2012, nephrologist's participation was on demand only; 2013 became continuous meetings case discussion. The aim this study establish how an intense nephrologist/intensivist interaction influenced frequency dialysis indication, fluid pRIFLE classification during these two observation periods.
OBJETIVO: avaliar o desempenho da haste extensível ancorada por ganchos (HIMEX) em deformidades osteogênese imperfeita (OI). MÉTODOS: Todas as crianças operadas com HIMEX entre 1990 - 2004. Foi comparado número de fraturas, reaparecimento e capacidade deambulação antes após a HIMEX; incidência migração sobrevida curvas sobrevivência. RESULTADOS: 14 pacientes (2 18 anos), oito do sexo feminino, incluindo 46 procedimentos, 39 primários sete re-operações. Idade média na primeira fratura 148,21...
Denys-Drash syndrome (DDS) is characterized by nephropathy, genital abnormalities, and predisposition to Wilms' tumor. DDS patients usually present heterozygous de novo germline <i>WT1</i> mutations. The gene comprises 10 exons encoding the N-terminal transactivation C-terminal DNA-binding regions. Two unrelated with ambiguity tumor were analyzed sequencing of gene, 3 mutations in exon 1 identified which 2 are novel. Patient carried a c.555delC mutation that causes frameshift...