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In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease

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Resumo:Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited renal disease; its diagnosis, which used to be made during adulthood, has shifted towards earlier ages due to the development and widespread use of ultrasonography. Very-early onset (VEO) cases represent a high-risk group of patients. We describe a case of prenatal diagnosis in a pregnant woman with ADPKD. This case shows how diagnosis of ADPKD through ultrasound may signal high-risk patients that may benefit from early and timely treatment.
Autores principais:Cal,Margarida
Outros Autores:Godinho,Iolanda; Sá,Mariana Soeiro e; Cunha,Margarida; Carvalho,Rui Marques de
Assunto:ADPKD In utero diagnosis VEO Ultrasound Preimplantation genetic diagnosis
Ano:2020
País:Portugal
Tipo de documento:relatório
Tipo de acesso:acesso aberto
Instituição associada:Fundação para a Ciência e Tecnologia
Idioma:inglês
Origem:SciELO Portugal

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