A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant

Congenital nephrotic syndrome (CNS) is a rare disease defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema presenting in the first three months of life. It is most commonly caused by mutations in the NPHS1 gene associated with nephrotic syndrome type 1, also known as Finnish-type...

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Detalles Bibliográficos
Autores principales: Golob, Valentina, Nosan, Gregor, Bertok, Sara, Frelih, Maja, Boštjančič, Emanuela, Rus, Rina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107997/
https://www.ncbi.nlm.nih.gov/pubmed/33938658
http://dx.doi.org/10.3325/cmj.2021.62.187

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107997/
https://www.ncbi.nlm.nih.gov/pubmed/33938658
http://dx.doi.org/10.3325/cmj.2021.62.187

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