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

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 pr...

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Detalles Bibliográficos
Autores principales: Wyniger, Lorena, Beuret, Nicole, Rutishauser, Jonas, Seelig, Eleonora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578377/
https://www.ncbi.nlm.nih.gov/pubmed/37908243
http://dx.doi.org/10.1210/jcemcr/luac023
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author Wyniger, Lorena
Beuret, Nicole
Rutishauser, Jonas
Seelig, Eleonora
author_facet Wyniger, Lorena
Beuret, Nicole
Rutishauser, Jonas
Seelig, Eleonora
author_sort Wyniger, Lorena
collection PubMed
description 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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spelling pubmed-105783772023-10-31 Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene Wyniger, Lorena Beuret, Nicole Rutishauser, Jonas Seelig, Eleonora JCEM Case Rep Case Report 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. Oxford University Press 2022-12-03 /pmc/articles/PMC10578377/ /pubmed/37908243 http://dx.doi.org/10.1210/jcemcr/luac023 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Wyniger, Lorena
Beuret, Nicole
Rutishauser, Jonas
Seelig, Eleonora
Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene
title Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene
title_full Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene
title_fullStr Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene
title_full_unstemmed Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene
title_short Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene
title_sort diagnosis and treatment of hereditary central diabetes insipidus in a swiss family with a mutation in the avp gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578377/
https://www.ncbi.nlm.nih.gov/pubmed/37908243
http://dx.doi.org/10.1210/jcemcr/luac023
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