Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation
作者: Rachel Sayuri HonjoEvelyn Cristina Nuñez VacaGabriela Nunes LealDeipara Monteiro AbellanNana Miura IkariMarcelo Biscegli JateneAna Maria MartinsChong Ae Kim
作者单位: 1Unidade de Genética do Instituto da Criança – Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, CEP 05403-000, São Paulo, Brazil
2Setor de Ecocardiografia do SADT do Instituto da Criança – Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil
3Departamento de Pediatria - Instituto da Criança – Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil
4Unidade de Cardiologia Pediátrica do Incor – Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil
5Unidade Cirúrgica Infantil do Instituto do Coração – Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil
6Departamento de Pediatria – Centro de Referência em Erros Inatos do Metabolismo, Universidade Federal de São Paulo, São Paulo, Brazil
刊名: BMC Medical Genetics, 2020, Vol.21 (1), pp.90-21391
来源数据库: Springer Nature Journal
DOI: 10.1186/s12881-020-0972-y
关键词: MucopolysaccharidosisMucopolysaccharidosis type VIFetal ascitesValvular diseaseInborn error of metabolismLysosomal disorder
原始语种摘要: Abstract(#br)Background(#br)The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (also known as arylsulfatase B) due to mutations of the ARSB gene. Cardiologic features are well recognized, and are always present in MPS VI patients. Generally, the onset and the progression of the cardiologic symptoms are insidious, and just a few patients have developed a rapidly progressive disease. Cardiac involvement in MPS VI is a common and progressive feature. For MPS patients, cardiac evaluations are recommended every 1 to 2 years, including blood pressure measurement, electrocardiography and echocardiography. However, congestive heart...
全文获取路径: Springer Nature  (合作)
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影响因子:2.536 (2012)

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