Three Pediatric Patients with Congenital Nephrogenic Diabetes Insipidus due to AVPR2 Nonsense Mutations and Different Clinical Manifestations: A Case Report

Congenital nephrogenic diabetes insipidus (CNDI), a rare hereditary disorder, is characterized by the inability of the kidneys to concentrate urine in response to the antidiuretic hormone arginine vasopressin (AVP); as a result, large volumes of unconcentrated urine are excreted. In addition to the...

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Detalles Bibliográficos
Autores principales: Watanabe, Hijiri, Tamura, Hiroshi, Furuie, Keishiro, Kuraoka, Shohei, Nakazato, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601857/
https://www.ncbi.nlm.nih.gov/pubmed/37900924
http://dx.doi.org/10.1159/000533895

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601857/
https://www.ncbi.nlm.nih.gov/pubmed/37900924
http://dx.doi.org/10.1159/000533895

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