Nephrogenic diabetes insipidus associated with a new mutation in the AVPR2 gene

Diabetes insipidus (DI) is an orphan disease clinically characterized by profound thirst and the excretion of large volumes of dilute urine. Nephrogenic diabetes insipidus (NDI) is characterized by resistance to the action of antidiuretic hormone (ADH). Hereditary NDI is associated with mutations in...

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Huvudupphovsmän: Y. A. Aleynikova, M. S. Berlovich, E. A. Pigarova, L. K. Dzeranova, M. S. Pankratova
Materialtyp: Artigo
Språk:Inglês
Publicerad: Endocrinology Research Centre 2025-09-01
Serie:Ожирение и метаболизм
Ämnen:
nephrogenic diabetes insipidus
polydipsia
polyuria
vasopressins
mutation
avpr2
Länkar:https://www.omet-endojournals.ru/jour/article/view/13220
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