Case Report: A Novel Compound Heterozygote Mutation of the SCNN1B Gene Identified in a Chinese Familial Pseudohypoaldosteronism Disease Type I With Persistent Hyperkalemia

BACKGROUND: Pseudohypoaldosteronism (PHA) diseases are difficult to diagnose because symptoms are often non-specific and an in-depth pathogenesis study is still lacking. CASE PRESENTATION: We present the case of a 19-day-old neonate who presented with unexplained recurrent hyperkalaemia, hypovolemia...

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Detalles Bibliográficos
Autores principales: Liu, Zongzhi, Wang, Xiaojiao, Zhang, Zilong, Yang, Zixin, Wang, Junyun, Wang, Yajuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960372/
https://www.ncbi.nlm.nih.gov/pubmed/35359893
http://dx.doi.org/10.3389/fped.2022.831284

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960372/
https://www.ncbi.nlm.nih.gov/pubmed/35359893
http://dx.doi.org/10.3389/fped.2022.831284

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