Case Report: A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr273Met Mutation in Arginine Vasopressin Receptor 2

Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary tubular dysfunction caused mainly by X-linked recessive inheritance of AVPR2 gene mutations. Pathogenic genes are a result of mutations in AVPR2 on chromosome Xq28 and in AQP2 on chromosome 12q13. The clinical manifestations of CN...

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Detalles Bibliográficos
Autores principales: Huang, Li, Ma, Lina, Li, Linjing, Luo, Jiajia, Sun, Tianhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8319565/
https://www.ncbi.nlm.nih.gov/pubmed/34336746
http://dx.doi.org/10.3389/fped.2021.707452

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8319565/
https://www.ncbi.nlm.nih.gov/pubmed/34336746
http://dx.doi.org/10.3389/fped.2021.707452

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