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1. Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease

Author

Gabriela Sevignani, Giovana Memari Pavanelli, Sibele Sauzem Milano, Bianca Ramos Ferronato, Maria Aparecida Pachaly, Hae II Cheong, Mauricio de Carvalho, and Fellype Carvalho Barreto

Subjects
Insuficiência Renal Crônica, Trombocitopenia, Síndrome Nefrótica, Doenças Genéticas Inatas, Doenças Raras, Diseases of the genitourinary system. Urology, RC870-923
Abstract

ABSTRACT MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts. Renal alterations were microhematuria, nephrotic-range proteinuria (up to 7.5 g/24h), and rapid loss of renal function. The decline per year of the glomerular filtration rate was 20 mL/min/1.73m2 for five years. Blockade of the renin-angiotensin system, the only recommended therapy for slowing the progression of this nephropathy, was prescribed. Although MYH9-related disease is a rare cause of glomerulopathy and end-stage renal disease, awareness of rare genetic kidney disorders is essential to ensure accurate diagnosis and proper management of orphan disease patients.

Published
2018
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2. IMPACTO-MR: a Brazilian nationwide platform study to assess infections and multidrug resistance in intensive care units

Author

Bruno M. Tomazini, Antonio Paulo Nassar Júnior, Thiago Costa Lisboa, Luciano César Pontes de Azevedo, Viviane Cordeiro Veiga, Daniela Ghidetti Mangas Catarino, Debora Vacaro Fogazzi, Beatriz Arns, Filipe Teixeira Piastrelli, Camila Dietrich, Karina Leal Negrelli, Isabella de Andrade Jesuíno, Luiz Fernando Lima Reis, Renata Rodrigues de Mattos, Carla Cristina Gomes Pinheiro, Mariane Nascimento Luz, Clayse Carla da Silva Spadoni, Elisângela Emilene Moro, Flávia Regina Bueno, Camila Santana Justo Cintra Sampaio, Débora Patrício Silva, Franca Pellison Baldassare, Ana Cecilia Alcantara Silva, Thabata Veiga, Leticia Barbante, Marianne Lambauer, Viviane Bezerra Campos, Elton Santos, Renato Hideo Nakawaga Santos, Ligia Nasi Laranjeiras, Nanci Valeis, Eliana Santucci, Tamiris Abait Miranda, Ana Cristina Lagoeiro do Patrocínio, Andréa de Carvalho, Eduvirgens Maria Couto de Sousa, Ancelmo Honorato Ferraz de Sousa, Daniel Tavares Malheiro, Isabella Lott Bezerra, Mirian Batista Rodrigues, Julliana Chicuta Malicia, Sabrina Souza da Silva, Bruna dos Passos Gimenes, Guilhermo Prates Sesin, Alexandre Prehn Zavascki, Daniel Sganzerla, Gregory Saraiva Medeiros, Rosa da Rosa Minho dos Santos, Fernanda Kelly Romeiro Silva, Maysa Yukari Cheno, Carolinne Ferreira Abrahão, Haliton Alves de Oliveira Junior, Leonardo Lima Rocha, Pedro Aniceto Nunes Neto, Valéria Chagas Pereira, Luis Eduardo Miranda Paciência, Elaine Silva Bueno, Eliana Bernadete Caser, Larissa Zuqui Ribeiro, Caio Cesar Ferreira Fernandes, Juliana Mazzei Garcia, Vanildes de Fátima Fernandes Silva, Alisson Junior dos Santos, Flávia Ribeiro Machado, Maria Aparecida de Souza, Bianca Ramos Ferronato, Hugo Corrêa de Andrade Urbano, Danielle Conceição Aparecida Moreira, Vicente Cés de Souza-Dantas, Diego Meireles Duarte, Juliana Coelho, Rodrigo Cruvinel Figueiredo, Fernanda Foreque, Thiago Gomes Romano, Daniel Cubos, Vladimir Miguel Spirale, Roberta Schiavon Nogueira, Israel Silva Maia, Cassio Luis Zandonai, Wilson José Lovato, Rodrigo Barbosa Cerantola, Tatiana Gozzi Pancev Toledo, Pablo Oscar Tomba, Joyce Ramos de Almeida, Luciana Coelho Sanches, Leticia Pierini, Mariana Cunha, Michelle Tereza Sousa, Bruna Azevedo, Felipe Dal-Pizzol, Danusa de Castro Damasio, Marina Peres Bainy, Dagoberta Alves Vieira Beduhn, Joana D’Arc Vila Nova Jatobá, Maria Tereza Farias de Moura, Leila Rezegue de Moraes Rego, Adria Vanessa da Silva, Luana Pontes Oliveira, Eliene Sá Sodré Filho, Silvana Soares dos Santos, Itallo de Lima Neves, Vanessa Cristina de Aquino Leão, João Lucidio Lobato Paes, Marielle Cristina Mendes Silva, Cláudio Dornas de Oliveira, Raquel Caldeira Brant Santiago, Jorge Luiz da Rocha Paranhos, Iany Grinezia da Silva Wiermann, Durval Ferreira Fonseca Pedroso, Priscilla Yoshiko Sawada, Rejane Martins Prestes, Glícia Cardoso Nascimento, Cintia Magalhães Carvalho Grion, Claudia Maria Dantas de Maio Carrilho, Roberta Lacerda Almeida de Miranda Dantas, Eliane Pereira Silva, Antônio Carlos da Silva, Sheila Mara Bezerra de Oliveira, Nicole Alberti Golin, Rogerio Tregnago, Valéria Paes Lima, Kamilla Grasielle Nunes da Silva, Emerson Boschi, Viviane Buffon, André Sant’Ana Machado, Leticia Capeletti, Rafael Botelho Foernges, Andréia Schubert de Carvalho, Lúcio Couto de Oliveira Junior, Daniela Cunha de Oliveira, Everton Macêdo Silva, Julival Ribeiro, Francielle Constantino Pereira, Fernanda Borges Salgado, Caroline Deutschendorf, Cristofer Farias da Silva, Andre Luiz Nunes Gobatto, Carolaine Bomfim de Oliveira, Marianna Deway Andrade Dracoulakis, Natália Oliveira Santos Alvaia, Roberta Machado de Souza, Larissa Liz Cardoso de Araújo, Rodrigo Morel Vieira de Melo, Luiz Carlos Santana Passos, Claudia Fernanda de Lacerda Vidal, Fernanda Lopes de Albuquerque Rodrigues, Pedro Kurtz, Cássia Righy Shinotsuka, Maria Brandão Tavares, Igor das Virgens Santana, Luciana Macedo da Silva Gavinho, Alaís Brito Nascimento, Adriano J. Pereira, and Alexandre Biasi Cavalcanti

Subjects
General Medicine, Critical Care and Intensive Care Medicine
Published
2022
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3. Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease

Author

Sibele Sauzem Milano, Hae Ii Cheong, Maria Aparecida Pachaly, Mauricio Carvalho, Gabriela Sevignani, Fellype C. Barreto, Giovana Memari Pavanelli, and Bianca Ramos Ferronato

Subjects
0301 basic medicine, Male, medicine.medical_specialty, Nephrotic Syndrome, Hearing Loss, Sensorineural, 030232 urology & nephrology, Renal function, Case Reports, lcsh:RC870-923, Gastroenterology, Nephropathy, Insuficiência Renal Crônica, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Rare Diseases, Glomerulopathy, Internal medicine, Doenças Raras, medicine, Missense mutation, Humans, Microhematuria, Renal Insufficiency, Chronic, Proteinuria, business.industry, Síndrome Nefrótica, Genetic Diseases, Inborn, General Medicine, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, medicine.icd_9_cm_classification, Thrombocytopenia, Trombocitopenia, Doenças Genéticas Inatas, 030104 developmental biology, Kidney disorder, medicine.symptom, business, Nephrotic syndrome
Abstract

MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts. Renal alterations were microhematuria, nephrotic-range proteinuria (up to 7.5 g/24h), and rapid loss of renal function. The decline per year of the glomerular filtration rate was 20 mL/min/1.73m2 for five years. Blockade of the renin-angiotensin system, the only recommended therapy for slowing the progression of this nephropathy, was prescribed. Although MYH9-related disease is a rare cause of glomerulopathy and end-stage renal disease, awareness of rare genetic kidney disorders is essential to ensure accurate diagnosis and proper management of orphan disease patients. RESUMO A doença relacionada ao MYH9 é um distúrbio autossômico dominante causado por mutações no gene MYH9 que codifica a cadeia pesada da miosina não muscular IIA no cromossomo 22q12. Ela é caracterizada por macrotrombocitopenia congênita, tendência a sangramento, perda auditiva e catarata. A nefropatia ocorre em aproximadamente 30% dos pacientes. O presente artigo relata o caso de um paciente com doença relacionada ao MYH9 portador de mutação missense de novo no exon 1 do gene MYH9 [c.287C > T; p.Ser(TCG)96(TTG)Leu]. Com a exceção de catarata, o paciente apresentou todas as manifestações fenotípicas da doença. As alterações renais incluíram micro-hematúria, proteinúria nefrótica (até 7,5 g/24h) e perda rápida da função renal. O declínio anual da taxa de filtração glomerular foi de 20 mL/min/1,73 m2 durante cinco anos. Foi receitado bloqueio do sistema renina-angiotensina, a única terapia recomendada para retardar a progressão dessa nefropatia. Embora a doença relacionada ao MYH9 seja uma causa rara de glomerulopatia e doença renal terminal, a conscientização sobre distúrbios genéticos renais raros é essencial para garantir o diagnóstico preciso e o manejo adequado dos pacientes com tal doença órfã.

Published
2017

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