Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene

Lorena Wyniger; Nicole Beuret; Jonas Rutishauser; Eleonora Seelig

doi:10.1210/jcemcr/luac023

Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene

JCEM Case Rep. 2022 Dec 3;1(1):luac023. doi: 10.1210/jcemcr/luac023. eCollection 2023 Jan.

Authors

Lorena Wyniger¹, Nicole Beuret², Jonas Rutishauser¹, Eleonora Seelig^{1

3}

Affiliations

¹ Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, 4031 Basel, Switzerland.
² Biozentrum, University of Basel, 4056 Basel, Switzerland.
³ University Clinic of Medicine, Cantonal Hospital Baselland, 4410 Liestal, Switzerland.

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.

Keywords: AVP; AVP deficiency; copeptin; hereditary central diabetes insipidus; mutation.

Publication types

Case Reports