Congenital nephrogenic diabetes insipidus presenting as osmotic demyelination syndrome in infancy: A case report

RATIONALE: Almost 90% of congenital nephrogenic diabetes insipidus (NDI) cases are caused by mutations in the arginine vasopressin receptor 2 gene, which has X-linked recessive inheritance. Although NDI is commonly diagnosed in early infancy based on its characteristic findings, clinical diagnosis c...

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Detalles Bibliográficos
Autores principales: Kobayashi, Satoru, Mizuno, Nana, Yokoi, Kyoko, Mori, Takayasu, Sohara, Eisei, Uchida, Shinichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8772767/
https://www.ncbi.nlm.nih.gov/pubmed/35060513
http://dx.doi.org/10.1097/MD.0000000000028552

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