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- Title
Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene.
- Authors
Wyniger, Lorena; Beuret, Nicole; Rutishauser, Jonas; Seelig, Eleonora
- Abstract
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.
- Subjects
DIABETES; GENETIC disorders; POLYDIPSIA; ARGININE; COPEPTINS
- Publication
JCEM Case Reports, 2023, Vol 1, Issue 1, p1
- ISSN
2755-1520
- Publication type
Article
- DOI
10.1210/jcemcr/luac023