Publicação
In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease
| 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. |
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| 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 |
| 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. |
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