A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life

INTRODUCTION: Pseudohypoaldosteronism type II (PHA II) is a Mendelian disorder, featuring hyperkalemic acidosis and low plasma renin levels, typically associated with hypertension. Mutations in WNK1, WNK4, CUL3, and KLHL3 cause PHA II, with dominant mutations in WNK1, WNK4, and CUL3 and either domin...

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Detalles Bibliográficos
Autores principales: Etges, Annika, Hellmig, Nicole, Walenda, Gudrun, Haddad, Bassam G., Machtens, Jan-Philipp, Morosan, Thomas, Rump, Lars Christian, Scholl, Ute I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2022
Materias:
Experimental Nephrology and Genetics: Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393831/
https://www.ncbi.nlm.nih.gov/pubmed/35093948
http://dx.doi.org/10.1159/000521626

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393831/
https://www.ncbi.nlm.nih.gov/pubmed/35093948
http://dx.doi.org/10.1159/000521626

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