Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B

Liddle syndrome (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset hypertension and hypokalemia. Clinically, misdiagnosis or missing diagnosis is common, since clinical phenotypes of LS are variable and nonspecific. We report a family with misdiagnosis of primary...

Descripción completa

Detalles Bibliográficos
Autores principales: Fan, Peng, Lu, Chao-Xia, Zhang, Di, Yang, Kun-Qi, Lu, Pei-Pei, Zhang, Ying, Meng, Xu, Hao, Su-Fang, Luo, Fang, Liu, Ya-Xin, Zhang, Hui-Min, Song, Lei, Cai, Jun, Zhang, Xue, Zhou, Xian-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311463/
https://www.ncbi.nlm.nih.gov/pubmed/30496127
http://dx.doi.org/10.1530/EC-18-0484

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311463/
https://www.ncbi.nlm.nih.gov/pubmed/30496127
http://dx.doi.org/10.1530/EC-18-0484

Ejemplares similares