MARIA HELENA VAISBICH
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
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- A comprehensive model for assessing and classifying patients with thrombotic microangiopathy: the TMA-INSIGHT score(2023) ADDAD, Vanessa Vilani; PALMA, Lilian Monteiro Pereira; VAISBICH, Maria Helena; BARBOSA, Abner Macola Pacheco; ROCHA, Naila Camila da; CARDOSO, Marilia Mastrocolla de Almeida; ALMEIDA, Juliana Tereza Coneglian de; SORDI, Monica A. P. de Paula de; MACHADO-RUGOLO, Juliana; ARANTES, Lucas Frederico; ANDRADE, Luis Gustavo Modelli deBackground Thrombotic Microangiopathy (TMA) is a syndrome characterized by the presence of anemia, thrombocytopenia and organ damage and has multiple etiologies. The primary aim is to develop an algorithm to classify TMA (TMA-INSIGHT score). Methods This was a single-center retrospective cohort study including hospitalized patients with TMA at a single center. We included all consecutive patients diagnosed with TMA between 2012 and 2021. TMA was defined based on the presence of anemia (hemoglobin level < 10 g/dL) and thrombocytopenia (platelet count < 150,000/mu L), signs of hemolysis, and organ damage. We classified patients in eight categories: infections; Malignant Hypertension; Transplant; Malignancy; Pregnancy; Thrombotic Thrombocytopenic Purpura (TTP); Shiga toxin-mediated hemolytic uremic syndrome (STEC-SHU) and Complement Mediated TMA (aHUS). We fitted a model to classify patients using clinical characteristics, biochemical exams, and mean arterial pressure at presentation. Results We retrospectively retrieved TMA phenotypes using automatic strategies in electronic health records in almost 10 years (n = 2407). Secondary TMA was found in 97.5% of the patients. Primary TMA was found in 2.47% of the patients (TTP and aHUS). The best model was LightGBM with accuracy of 0.979, and multiclass ROC-AUC of 0.966. The predictions had higher accuracy in most TMA classes, although the confidence was lower in aHUS and STEC-HUS cases. Conclusion Secondary conditions were the most common etiologies of TMA. We retrieved comorbidities, associated conditions, and mean arterial pressure to fit a model to predict TMA and define TMA phenotypic characteristics. This is the first multiclass model to predict TMA including primary and secondary conditions.
conferenceObject PEDIATRIC KIDNEY TRANSPLANTATION: STUDYING DONOR AND RECIPIENT CHARACTERISTICS ON LONG-TERM OUTCOMES(2013) TORRICELLI, Fabio C. M.; MESSI, Gustavo B.; ANTONOPOULOS, Ioannis M.; PIOVESAN, Affonso C.; FALCI JR., Renato; KANASHIRO, Hideki; EBAID, Gustavo X.; SCHVARTSMAN, Benita G. S.; WATANABE, Andreia; VAISBICH, Maria H.; DAVID-NETO, Elias; NAHAS, William C.PURPOSE: To study donor and recipient characteristics on graft and pediatric patient survival rates. METHOD: We retrospectively reviewed 287 electronic charts of patients (under 18 year-old) underwent kidney transplantation from 01/1985 to 10/2012. Outcomes were analyzed based on the type of donor (deceased vs. living kidney donor) and recipient ESRD cause (nephrological vs. urological disease). The outcomes from recipients of deceased donors were also analyzed based on age of donors (< 17 vs. ≥ 18 years). Thereafter, the outcomes from first transplant and retransplant were compared apart. Graft and patient survival rates were compared with Kaplan-Meier curve and analyzed with Log-rank test. RESULTS: There were 309 pediatric kidney transplants in 287 children. 274 were first, 33 were second, and 2 were third grafts. 193 of 274 (67.2%) and 18 of 33 (54.5%) were living kidney transplantation. 62% of deceased donors were under 17 year-old. Regarding ESRD 195 (68%) patients presented with a nephrological cause, while 92 (32%) presented with a urological one. Of those with a urological cause, 28 (30.4%) underwent bladder augmentation. Mean follow-up was 13.7 (0–27) years. Overall, graft survival rate in one, 5 and 10 years of follow-up was 90.1%, 73.2% and 57.9%, while patient survival rate was 96.0%, 91.9% and 87.2%, respectively. There was a tendency of a higher graft survival rate in children with living kidney donors (p=0.058). There was no difference in the outcomes from first and second transplant, except by a higher immunological graft loss in retransplant group (p=0.032). There was also no difference in the graft survival rates regarding age of donor (p=0.630) and recipient ESRD cause (p=0.890). CONCLUSION: Long-term outcomes from pediatric kidney transplantation are not related to age of donor and recipient ESRD cause, since the urogenital abnormality has been corrected. Living kidney transplantation seems to present a higher graft survival rate.- Collaborative Brazilian Pediatric Renal Transplant Registry (CoBrazPed-RTx): A Report From 2004 to 2013(2015) GARCIA, C.; PESTANA, J. M.; MARTINS, S.; NOGUEIRA, P.; BARROS, V.; ROHDE, R.; CAMARGO, M.; FELTRAN, L.; ESMERALDO, R.; CARVALHO, R.; SCHVARTSMAN, B.; VAISBICH, M.; WATANABE, A.; CUNHA, M.; MENESES, R.; PRATES, L.; BELANGERO, V.; PALMA, L.; CARVALHO, D.; MATUK, T.; BENINI, V.; LARANJO, S.; ABBUD-FILHO, M.; CHARPIOT, I. M. M.; RAMALHO, H. J.; LIMA, E.; PENIDO, J.; ANDRADE, C.; GESTEIRA, M.; TAVARES, M.; PENIDO, M.; SOUZA, V. De; WAGNER, M.Background. The Collaborative Brazilian Pediatric Renal Transplant Registry started in 2004 as a multicenter initiative aiming to analyze, report, and share the results of pediatric kidney transplantation in Brazil. Data from all pediatric kidney transplants performed between January 2004 and December 2013 were recorded electronically and periodically updated. All patients under 18 years old from the participating centers were enrolled. Demographic data, etiology of chronic kidney disease, and patient and graft survival were analyzed. From a total of 2443 pediatric kidney transplants performed in Brazil during the study period, we report data from 1751 pediatric renal transplants performed in 13 centers enrolled in the collaborative study. Median age at transplantation was 12.4 years, and most of recipients were male (56%). The most common underlying renal etiologies were obstructive uropathy (31%) and glomerulopathy (26%). Methods. According to donor source, 1155 (66%) of transplants were performed with deceased donors (DD). Initial immunosuppression consisted mainly of tacrolimus, mycophenolate, steroids, and induction therapy with anti-IL-2R antibodies. Results. One-year graft survival (death-censored) was 93% and 90% (log rank test, P < .01), respectively, for living donor (LD) and DD. Graft losses (15%) were most frequently caused by vascular thrombosis, chronic allograft nephropathy, death with functioning kidney, acute rejection, and recurrent renal disease. Recipients of DD had 2.02 (95% confidence interval: 1.14-3.59) times the hazard of graft loss compared with those of LD (P = .015). Patient survival rates at 1 and 5 years were 98% and 97% for LD and 97% and 93% for DD, respectively. The mortality rate was 3.8%, mainly as the result of infection and cardiovascular disease. Conclusions. The results of this collaborative pediatric transplant study are comparable to international registries. Our effort has been able to maintain an exchange of information, both among the participating centers and with other international registries.
- Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021(2022) SILVA, Cassiano Augusto Braga; ANDRADE, Luis Gustavo Modelli de; VAISBICH, Maria Helena; BARRETO, Fellype de CarvalhoAbstract Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene encoding enzyme alpha-galactosidase A (α-Gal A). The purpose of this study was to produce a consensus statement to standardize the recommendations concerning kidney involvement in FD and provide advice on the diagnosis, screening, and treatment of adult and pediatric patients. This consensus document was organized from an initiative led by the Committee for Rare Diseases (Comdora) of the Brazilian Society of Nephrology (SBN). The review considered randomized clinical trials, real-world data studies, and the expertise of its authors. The purpose of this consensus statement is to help manage patient and physician expectations concerning the outcomes of treatment. Our recommendations must be interpreted within the context of available evidence. The decisions pertaining to each individual case must be made with the involvement of patients and their families and take into account not only the potential cost of treatment, but also concurrent conditions and personal preferences. The Comdora intends to update these recommendations regularly so as to reflect recent literature evidence, real-world data, and appreciate the professional experience of those involved. This consensus document establishes clear criteria for the diagnosis of FD and for when to start or stop specific therapies or adjuvant measures, to thus advise the medical community and standardize clinical practice.
- Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts(2023) VAISBICH, Maria Helena; MESSA, Ana Carola Hebbia Lobo; RANGEL-SANTOS, Andreia Cristiane; FERREIRA, Juliana Caires de Oliveira Achili; NUNES, Fernanda Andrade Macaferri da Fonseca; WATANABE, AndreiaBackground: Genetic testing is recommended for accurate diagnosis of Bartter syndrome (BS) and serves as a basis for implementing specific target therapies. However, populations other than Europeans and North Americans are underrepresented in most databases and there are uncertainties in the genotype-phenotype correlation. We studied Brazilian BS patients, an admixed population with diverse ancestry. Methods: We evaluated the clinical and mutational profile of this cohort and performed a systematic review of BS mutations from worldwide cohorts. Results: Twenty-two patients were included; Gitelman syndrome was diagnosed in 2 siblings with antenatal BS and congenital chloride diarrhea in 1 girl. BS was confirmed in 19 patients: BS type 1 in 1 boy (antenatal BS); BS type 4a in 1 girl and BS type 4b in 1 girl, both of them with antenatal BS and neurosensorial deafness; BS type 3 (CLCNKB mutations): 16 cases. The deletion of the entire CLCNKB (1-20 del) was the most frequent variant. Patients carrying the 1-20 del presented earlier manifestations than those with other CLCNKB-mutations and the presence of homozygous 1-20 del was correlated with progressive chronic kidney disease. The prevalence of the 1-20 del in this BS Brazilian cohort was similar to that of Chinese cohorts and individuals of African and Middle Eastern descent from other cohorts. Conclusion: This study expands the genetic spectrum of BS patients with different ethnics, reveals some genotype/phenotype correlations, compares the findings with other cohorts, and provides a systematic review of the literature on the distribution of BS-related variants worldwide.
conferenceObject Rituximab - Efficacy and adverse events in selected children and adolescents with challenging idiopathic nephrotic syndrome (INS)(2016) PADOVAN, F. L.; SOUZA, K. M.; LANDENBERGER, C. F. S.; HENRIQUES, L. S.; SCHVARTSMAN, B. G. S.; VAISBICH, M. H.- Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease(2018) VAISBICH, Maria Helena; SATIRO, Carla Aline Fernandes; ROZ, Deborah; NUNES, Debora de Almeida Domingues; MESSA, Ana Carola H Lobo; LANETZKI, Camila; FERREIRA, Juliana Caires de Oliveira AchiliAbstract Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are difficulties in obtaining adequate treatment when available, in raising patient and family awareness about the disease and treatment compliance. Nephropathic cystinosis is among these diseases. After more than 20 years as a care center for these patients, the authors propose a follow-up protocol, which has been used with improvement in the quality of care and consists of a multidisciplinary approach, including care provided by a physician, nurse, psychologist, nutritionist and social worker. In this paper, each field objectively exposes how to address points that involve the stages of diagnosis and its communication with the patient and their relatives or guardians, covering the particularities of the disease and the treatment, the impact on the lives of patients and families, the approach to psychological and social issues and guidelines on medications and diets. This protocol could be adapted to the follow-up of patients with other rare diseases, including those with renal involvement. This proposal is expected to reach the largest number of professionals involved in the follow-up of these patients, strengthening the bases for the creation of a national protocol, observing the particularities of each case.
- Pharmacokinetics of cyclosporin - a microemulsion in children with idiopathic nephrotic syndrome(2012) HENRIQUES, Luciana dos Santos; MATOS, Fabiola de Marcos; VAISBICH, Maria HelenaOBJECTIVE: We present a prospective study of a microemulsion of cyclosporin to treat idiopathic nephrotic syndrome in ten children with normal renal function who presented cyclosporin trough levels between 50 and 150 ng/ml and achieved complete remission with cyclosporin. To compare the pharmacokinetic parameters of cyclosporin in idiopathic nephrotic syndrome during remission and relapse of the nephrotic state. METHOD: The pharmacokinetic profile of cyclosporin was evaluated with the 12-hour area under the time-concentration curve (auc0-12) using seven time-point samples. This procedure was performed on each patient during remission and relapse with the same cyclosporin dose in mg/kg/day. The 12-hour area under the time-concentration curve was calculated using the trapezoidal rule. All of the pharmacokinetic parameters and the resumed 4-hour area under the time-concentration curve were correlated with the 12-hour area under the time-concentration curve. ClinicalTrials.gov: NCT01616446. RESULTS: There were no significant differences in any parameters of the pharmacokinetic of cyclosporin during remission and relapse, even when the data were normalized by dose. The best correlation with the 12-hour area under the time-concentration curve was the 4-hour area under the time-concentration curve on remission and relapse of the disease, followed by the 2-hour level after cyclosporin (c2) dosing in both disease states. CONCLUSIONS: These data indicate that the same parameters used for cyclosporin therapeutic monitoring estimated during the nephrotic state can also be used during remission. Larger controlled studies are needed to confirm these findings.
conferenceObject COLLABORATIVE BRAZILIAN PEDIATRIC RENAL TRANSPLANT REGISTRY (COBRAZPED-RTX): A REPORT FROM 2004-2014(2015) GARCIA, Clotilde; PESTANA, Jose Medina; MARTINS, Suelen; NOGUEIRA, Paulo; BITTENCOURT, Viviane; ROHDE, Roberta; CAMARGO, Maria; CAMARGO, Maria; FELTRAN, Luciana; ESMERALDO, Ronaldo; CARVALHO, Rebeca; SCHVARTSMAN, Benita; VAISBICH, Maria; KOCH, Vera; WATANABE, Andrea; CUNHA, Mariana; MENESES, Rejane; PRATES, Liliane; BELANGERO, Vera; PALMA, Lilian; CARVALHO, Deise; MATUK, Teresa; BENINI, Vanda; LARANJO, Simone; ABBUD FILHO, Mario; FERNANDES, Ida; RAMALHO, Horacio; LIMA, Eleonora; PENIDO, Jose; ANDRADE, Claudia; GESTEIRA, Maria; TAVARES, Marcelo; PENIDO, Mariana; SOUZA, Vandrea De; WAGNER, Mario- N-acetyl-cysteine is associated to renal function improvement in patients with nephropathic cystinosis(2014) GUIMARAES, Luciana Pache de Faria; SEGURO, Antonio Carlos; SHIMIZU, Maria Heloisa Mazzola; NERI, Leticia Aparecida Lopes; SUMITA, Nairo Massakasu; BRAGANCA, Ana Carolina de; VOLPINI, Rildo Aparecido; SANCHES, Talita Rojas Cunha; FONSECA, Fernanda Andrade Macaferri da; MOREIRA FILHO, Carlos Alberto; VAISBICH, Maria HelenaNephropathic cystinosis is an autosomal recessive systemic severe disease characterized by intralysosomal cystine storage. Cysteamine is an essential component of treatment. There is solid evidence that cystine accumulation itself is not responsible for all abnormalities in cystinosis; there is also a deficiency of glutathione in the cytosol. Patients with cystinosis can be more susceptible to oxidative stress. The patient cohort comprised 23 cystinosis patients (16 males) aged < 18 years (mean age 8.0 +/- 3.6 years) with chronic kidney disease class I-IV with good adherence to treatment, including cysteamine. Oxidative stress was evaluated based on the levels of serum thiobarbituric acid-reactive substances (TBARS), and renal function was evaluated based on serum creatinine and cystatin C levels and creatinine clearance (Schwartz formula). N-Acetylcysteine (NAC), an antioxidant drug was given to all patients for 3 months (T1) at 25 mg/kg/day divided in three doses per day. The measured values at just before the initiation of NAC treatment (T0) served as the control for each patient. Median serum TBARS levels at T0 and T1 were 6.92 (range 3.3-29.0) and 1.7 (0.6-7.2) nmol/mL, respectively (p < 0.0001). In terms of renal function at T0 and T1, serum creatinine levels (1.1 +/- 0.5 vs. 0.9 +/- 0.5 mg/dL, respectively; p < 0.0001), creatinine clearance (69.7 +/- 32.2 vs. T1 = 78.5 +/- 33.9 mL/min/1.73 m(2), respectively; p = 0.006), and cystatin c level (1.33 +/- 0.53 vs. 1.15 +/- 0.54 mg/l, respectively; p = 0.0057) were all significantly different at these two time points. Serum creatinine measurements at 6 (T -6) and 3 months (T -3) before NAC initiation and at 3 (T +3) and 6 months (T +6) after NAC had been withdrawn were also evaluated. During the 3-month period that our 23 cystinosis patients were treated with NAC, oxidative stress was reduced and renal function significantly improved. No side-effects were detected. Larger and controlled studies are needed to confirm these findings.