Lorena Wyniger, Nicole Beuret, Jonas Rutishauser, Eleonora Seelig
JCEM Case Reports, Volume 1, Issue 1, January 2023, luac023
https://doi.org/10.1210/jcemcr/luac023
Hereditary central diabetes insipidus (CDI) is a genetic disorder characterized by polydipsia and polyuria. Most known mutations are located in the arginine-vasopressin (AVP) gene. Here, we describe a Swiss family with an autosomal dominant mutation in the AVP gene region encoding for the carrier protein neurophysin II (P55R). In addition, we discuss the algorithm for diagnosing and treating patients with hereditary CDI based on this Swiss family.
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