LUIZ FERNANDO ONUCHIC
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Clínica Médica, Faculdade de Medicina - Docente
LIM/29 - Laboratório de Nefrologia Celular, Genética e Molecular, Hospital das Clínicas, Faculdade de Medicina - Líder
LIM/29 - Laboratório de Nefrologia Celular, Genética e Molecular, Hospital das Clínicas, Faculdade de Medicina - Líder
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- Two cases of fungal cyst infection in ADPKD: is this really a rare complication?(2019) ONUCHIC, Laura; SATO, Victor Augusto Hamamoto; NEVES, Precil Diego Miranda de Menezes; BALBO, Bruno Eduardo Pedroso; PORTELA-NETO, Antonio Abel; FERREIRA, Fernanda Trani; WATANABE, Elieser Hitoshi; WATANABE, Andreia; ALMEIDA, Maria Claudia Stockler de; TESTAGROSSA, Leonardo de Abreu; CHOCAIR, Pedro Renato; ONUCHIC, Luiz FernandoBackground: 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.
- Functional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease(2017) NEVES, Precil Diego Miranda de Menezes; BALBO, Bruno Eduardo Pedroso; WATANABE, Elieser Hitoshi; ROCHA-SANTOS, Vinicius; ANDRAUS, Wellington; D'ALBUQUERQUE, Luiz Augusto Carneiro; ONUCHIC, Luiz FernandoA 50-year-old woman with end-stage renal disease secondary to autosomal dominant polycystic kidney disease was referred to a quaternary care center due to significantly increased abdominal girth. Her physical examination revealed tense ascites and abdominal collateral veins. A 10-L paracentesis improved abdominal discomfort and disclosed a transudate, suggestive of portal hypertension. A computed tomographic scan revealed massive hepatomegaly caused by multiple cysts of variable sizes, distributed throughout all hepatic segments. Contrast-enhanced imaging uncovered extrinsic compression of hepatic and portal veins, resulting in functional Budd-Chiari syndrome and portal hypertension. Although image-guided drainage followed by sclerosis of dominant cysts could potentially lead to alleviation of the extrinsic compression, the associated significant risk of cyst hemorrhage and infection precluded this procedure. In this scenario, the decision was to submit the patient to a liver-kidney transplantation. After 1 year of this procedure, the patient maintains normal liver and kidney function and refers significant improvement in quality of life.
bookPart Doença renal policística autossômica dominante(2013) BALBO, Bruno Eduardo Pedroso; ONUCHIC, Luiz Fernando- The effect of sirolimus on angiomyolipoma is determined by decrease of fat-poor compartments and includes striking reduction of vascular structures(2021) WATANABE, Elieser Hitoshi; COELHO, Fernando Morbeck Almeida; LEAO FILHO, Hilton; BALBO, Bruno Eduardo Pedroso; NEVES, Precil Diego Miranda de Menezes; FRANZIN, Fernanda Maria; YAMAUCHI, Fernando Ide; ONUCHIC, Luiz FernandoRenal angiomyolipomas hemorrhage is associated with their size and vascular constitution. The effects of sirolimus on different components of angiomyolipomas was analyzed in patients with tuberous sclerosis complex, sporadic lymphangioleiomyomatosis and multiple sporadic angiomyolipomas. Thirty angiomyolipomas from 14 patients treated with sirolimus were retrospectively evaluated. A Hounsfield-unit threshold was used to classify angiomyolipomas in fat-rich, fat-poor and intermediate-fat tumors, and to categorize tumor compartments in fat rich, fat poor, intermediate fat and highly vascularized. Diameter variations were measured to assess the effects on aneurysmatic/ectatic vascular formations. Volume reduction following treatment with sirolimus was higher in fat-poor than fat-rich angiomyolipomas. Tumor reduction was mainly determined by decrease of the fat-poor and highly-vascularized compartments while the volume of the fat-rich compartment increased. Broad liposubstitution was observed in some tumors. A median reduction of 100% (75 to 100) in the diameter of aneurysmatic/ectatic vascular structures was observed. Our study showed that sirolimus reduces the size of angiomyolipomas by decreasing primarily their highly-vascularized and fat-poor compartments. This effect is associated with a remarkable reduction of tumoral aneurysms/ectatic vessels, revealing the likely mechanism responsible for the risk-decreasing effect of mTOR inhibitors on angiomyolipoma bleeding. These findings support the role of mTOR in the development of angiomyolipoma blood vessels.
- Concentration of Serum Vascular Endothelial Growth Factor (VEGF-D) and Its Correlation with Functional and Clinical Parameters in Patients with Lymphangioleiomyomatosis from a Brazilian Reference Center(2019) AMARAL, Alexandre Franco; OLIVEIRA, Martina Rodrigues de; DIAS, Olivia Meira; ARIMURA, Fabio Eiji; FREITAS, Carolina Salim Goncalves; ACENCIO, Milena Marques Pagliarelli; ALVARENGA, Vanessa Adelia de; KAIRALLA, Ronaldo Adib; CARVALHO, Carlos Roberto Ribeiro; BALDI, Bruno Guedes; SCLEROSIS, Tuberous; BALBO, Bruno Eduardo Pedroso; WATANABE, Elieser Hitoshi; SAMORANO, Luciana Paula; ONUCHIC, Luiz Fernando; RIVITTI-MACHADO, Maria Cecilia da Matta; MANREZA, Maria Luiza Giraldes de; CORDEIRO, Mauricio Dener; TAKAHASHI, Patricia; OLIVEIRA, Zilda Najjar Prado deIntroductionSerum vascular endothelial growth factor-D (VEGF-D) is a lymphangiogenic growth factor that is considered a valuable tool in the diagnosis of lymphangioleiomyomatosis (LAM). Previous studies have reported a wide variability in VEGF-D serum levels in LAM patients and it seems to be associated with pulmonary impairment and lymphatic involvement.MethodsWe conducted a cross-sectional study from 2009 to 2017 that evaluated VEGF-D serum levels in a cohort of LAM patients who were never treated with mTOR inhibitors and compared them to healthy age-matched volunteers. Clinical and functional parameters were assessed and correlated with their respective serum VEGF-D levels.ResultsOne hundred and four patients were included in the analysis. Serum VEGF-D levels were higher in LAM patients compared to healthy controls: 796 (404-1588) versus 162 (117-232)pg/mL, respectively (p<0.001). Patients with tuberous sclerosis complex-LAM, TSC-LAM (20%), had higher levels of VEGF-D when compared to patients with sporadic LAM (80%) [1005 (641-2732) vs. 772 (370-1383), p=0.05]. Serum VEGF-D levels were weakly correlated with DLCO (r=-0.26, p=0.001) and lymphatic involvement was more frequent in those with serum VEGF-D levels equal or above 800pg/mL (35% vs. 13%, p=0.02).ConclusionsIn LAM, serum VEGF-D is weakly associated with lung function impairment and strongly associated with lymphatic involvement. VEGF-D is validated for use in Brazilian patients with LAM whose characteristics must be accounted for when evaluating their serum VEGF-D levels.
- Infundibular stenosis in Bardet-Biedl syndrome(2011) BALBO, Bruno Eduardo Pedroso; VICENTINI, Fabio Carvalho; MAZZUCCHI, Eduardo; ONUCHIC, Luiz Fernando
bookPart Doenças císticas renais(2016) BALBO, Bruno Eduardo Pedroso; ONUCHIC, Luiz Fernando- A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family(2019) MONTEIRO, Maria Luiza Goncalves dos Reis; CUSTODIO, Fabiano Bichuette; NEVES, Precil Diego Miranda de Menezes; FERREIRA, Frederico Moraes; WATANABE, Elieser Hitoshi; LERARIO, Antonio Marcondes; ARAUJO, Liliane Silvano de; BALBO, Bruno Eduardo Pedroso; PINTO, Vivian Christine Dourado; BARBOSA, Livia Maria Gruli; MARQUES, Vilmar de Paiva; MACHADO, Juliana Reis; REIS, Marlene Antonia; ONUCHIC, Luiz FernandoBackground Glomerulopathy with fibronectin deposits is an autosomal dominant disease associated with proteinuria, hematuria, hypertension and renal function decline. Forty percent of the cases are caused by mutations in FN1, the gene that encodes fibronectin. Case presentation This report describes two cases of Glomerulopathy with fibronectin deposits, involving a 47-year-old father and a 14-year-old son. The renal biopsies showed glomeruli with endocapillary hypercellularity and large amounts of mesangial and subendothelial eosinophilic deposits. Immunohistochemistry for fibronectin was markedly positive. Whole exome sequencing identified a novel FN1 mutation that leads to an amino-acid deletion in both patients (Ile1988del), a variant that required primary amino-acid sequence analysis for assessment of pathogenicity. Our primary sequence analyses revealed that Ile1988 is very highly conserved among relative sequences and is positioned in a C-terminal FN3 domain containing heparin- and fibulin-1-binding sites. This mutation was predicted as deleterious and molecular mechanics simulations support that it can change the tertiary structure and affect the complex folding and its molecular functionality. Conclusion The current report not only documents the occurrence of two GFND cases in an affected family and deeply characterizes its anatomopathological features but also identifies a novel pathogenic mutation in FN1, analyzes its structural and functional implications, and supports its pathogenicity.