Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene

Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and h...

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Detalles Bibliográficos
Autores principales: Acar, Filiz Aktürk, Işik, Güneş, Mutlu, Mehmet, Kader, Şebnem, Aslan, Yakup, Kalyoncu, Mukaddes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755923/
https://www.ncbi.nlm.nih.gov/pubmed/31571745
http://dx.doi.org/10.4103/ijn.IJN_175_18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755923/
https://www.ncbi.nlm.nih.gov/pubmed/31571745
http://dx.doi.org/10.4103/ijn.IJN_175_18

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