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
7 resultados
Resultados de Busca
Agora exibindo 1 - 7 de 7
- Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI)(2020) FELTRAN, Luciana S.; WATANABE, Andreia; GUARAGNA, Mara S.; MACHADO, Ivan C.; CASIMIRO, Fernanda M. S.; NEVES, Precil D. M. M.; PALMA, Lilian M.; VARELA, Patricia; VAISBICH, Maria H.; MARIE, Suely K. N.; FACINCANI, Inalda; PESQUERO, Joao B.; BELANGERO, Vera M. S.; SAMPSON, Matthew G.; NOGUEIRA, Paulo C. Koch; ONUCHIC, Luiz F.
- Post-transplantation Recurrence of Fibrinogen A-alpha Amyloidosis(2021) FEITOSA, Valkercyo A.; FERREIRA, Fernanda T.; NEVES, Precil D. M. M.; WATANABE, Andreia; WATANABE, Elieser H.; PROENCA, Henrique M. S.; AZEVEDO, Vega F. S.; PESTANA, Jose Osmar M.; ONUCHIC, Luiz F.
- WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease(2022) FERRARI, M. T. M.; WATANABE, A.; SILVA, T. E. Da; GOMES, N. L.; BATISTA, R. L.; NISHI, M. Y.; PAULA, L. C. P. De; COSTA, E. C.; COSTA, E. M. F.; CUKIER, P.; ONUCHIC, L. F.; MENDONCA, B. B.; DOMENICE, S.Wilms' tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Heterozygous germline pathogenic allelic variants of WT1 have been classically associated with Denys-Drash syndrome (DDS) and Frasier syndrome (FS). Usually, exonic pathogenic missense variants in the zinc finger region are the cause of DDS, whereas pathogenic variants affecting the canonic donor lysine-threonine-serine splice site in intron 9 cause FS. Phenotypic overlap between WT1 disorders has been frequently observed. New WT1 variant-associated phenotypes, such as 46,XX testicular/ovarian-testicular disorders of sex development (DSD) and primary ovarian insufficiency, have been reported. In this report, we describe the phenotypes and genotypes of 7 Brazilian patients with pathogenic WT1 variants. The molecular study involved Sanger sequencing and massively parallel targeted sequencing using a DSD-associated gene panel. Six patients (5 with a 46,XY karyotype and 1 with a 46,XX karyotype) were initially evaluated for atypical genitalia, and a 46,XY patient with normal female genitalia sought medical attention for primary amenorrhea. Germ cell tumors were identified in 2 patients, both with variants affecting alternative splicing of WT1 between exons 9 and 10. Two pathogenic missense WT1 variants were identified in two 46,XY individuals with Wilms' tumors; both patients were <1 year of age at the time of diagnosis. A novel WT1 variant, c.1453_1456 (p.Arg485Glyfs∗14), was identified in a 46,XX patient with testicular DSD. Nephrotic proteinuria was diagnosed in all patients, including 3 who underwent renal transplantation after progressing to end-stage kidney disease. The expanding phenotypic spectrum associated with WT1 variants in XY and XX individuals confirms their pivotal role in gonadal and renal development as well as in tumorigenesis, emphasizing the clinical implications of these variants in genetic diagnosis.
- 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.
- Mitochondrial Calcium Dynamics and Bioenergetics in Autosomal Dominant Polycystic Kidney Disease: more pieces to the puzzle(2023) AMARAL, Andressa; SERNA, Julian David Cualcialpud; SILVA, Camille C. Caldeira da; COSTA, Eliene; ONUCHIC, Luiz Fernando; KOWALTOWSKI, Alicia
- The immunohistological profile of membranous nephropathy associated with syphilis infection(2021) WANDERLEY, David Campos; NEVES, Precil Diego Miranda de Menezes; JORGE, Lecticia Barbosa; ONUCHIC, Luiz Fernando; ARAUJO, Stanley Almeida
- Brazilian Consortium for the Study on Renal Diseases Associated With COVID-19: A Multicentric Effort to Understand SARS-CoV-2-Related Nephropathy(2020) TEIXEIRA JUNIOR, Antonio Augusto Lima; NEVES, Precil Diego Miranda de Menezes; LAGES, Joyce Santos; CUNHA, Kaile de Araujo; MUNIZ, Monique Pereira Rego; BRITO, Dyego Jose de Araujo; WATANABE, Andreia; WATANABE, Elieser Hitoshi; ONUCHIC, Luiz Fernando; NUNES, Lucas Lobato Acatauassu; COUTINHO FILHO, Antonio Fernando; BARCELOS, Flavia Lara; GATTO, Giuseppe Cesare; MONTEIRO, Antonio; POLIDO, Diego do Amaral; MOTTA, Douglas Rafanelle Moura de Santana; LEITE, Thaisa de Oliveira; GUEDES, Felipe Leite; GOMES, Orlando Vieira; VALENTE, Lucila Maria; ISRAEL, Karla Cristina Silva Petruccelli; LADCHUMANANANDASIVAM, Francisco Rasiah; FARIAS, Ligia Cristina Lopes de; MARQUES, Igor Denizarde Bacelar; ULIANO, Gustavo Lemos; MARAMALDO, Carlos Eduardo Campos; NETO, Lidio Goncalves Lima; LUCHI, Weverton Machado; WANDERLEY, David Campos; ARAUJO, Stanley de Almeida; SALGADO FILHO, Natalino; SILVA, Gyl Eanes BarrosKidney involvement appears to be frequent in coronavirus disease 2019 (COVID-19). Despite this, information concerning renal involvement in COVID-19 is still scarce. Several mechanisms appear to be involved in the complex relationship between the virus and the kidney. Also, different morphological patterns have been described in the kidneys of patients with COVID-19. For some authors, however, this association may be just a coincidence. To investigate this issue, we propose assessing renal morphology associated with COVID-19 at the renal pathology reference center of federal university hospitals in Brazil. Data will come from a consortium involving 17 federal university hospitals belonging to Empresa Brasileira de Servicos Hospitalares (EBSERH) network, as well as some state hospitals and an autopsy center. All biopsies will be sent to the referral center for renal pathology of the EBSERH network. The data will include patients who had coronavirus disease, both alive and deceased, with or without pre-existing kidney disease. Kidney biopsies will be analyzed by light, fluorescence, and electron microscopy. Furthermore, immunohistochemical (IHC) staining for various inflammatory cells (i.e., cells expressing CD3, CD20, CD4, CD8, CD138, CD68, and CD57) as well as angiotensin-converting enzyme 2 (ACE2) will be performed on paraffinized tissue sections. In addition to ultrastructural assays, in situ hybridization (ISH), IHC and reverse transcription-polymerase chain reaction (RT-PCR) will be used to detect Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV-2) in renal tissue. For the patients diagnosed with Collapsing Glomerulopathy, peripheral blood will be collected for apolipoprotein L-1 (APOL1) genotyping. For patients with thrombotic microangiopathy, thrombospondin type 1 motif, member 13 (ADAMTS13), antiphospholipid, and complement panel will be performed. The setting of this study is Brazil, which is second behind the United States in highest confirmed cases and deaths. With this complete approach, we hope to help define the spectrum and impact, whether immediate or long-term, of kidney injury caused by SARS-CoV-2.