ODP279 A Case of Nephrogenic Diabetes Insipidus Diagnosed at an Advanced Age in a Female Patient with an AVPR2 Gene Mutation and Skewed×Inactivation

BACKGROUND: Arginine vasopressin receptor 2 (AVPR2) gene mutationsare the most common cause of congenital nephrogenic diabetes insipidus (CNDI), and they are inherited in an X-linked recessive manner. Women are generally asymptomatic or mildly affected, but atypically severe cases have been reported...

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Detalles Bibliográficos
Autores principales: Nakata, Kento, Kameda, Hiraku, Kuwabara, Saki, Yasui, Ayano, Takahashi, Yuka, Miya, Aika, Nomoto, Hiroshi, Cho, Kyu Yong, Nakamura, Akinobu, Miyoshi, Hideaki, Okada, Eri, Nozu, Kandai, Atsumi, Tatsuya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Genetics & Development
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626823/
http://dx.doi.org/10.1210/jendso/bvac150.935

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626823/
http://dx.doi.org/10.1210/jendso/bvac150.935

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