Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the<i>AVP</i>Gene-Reference-Cited by-同舟云学术

Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in theAVPGene

Published:2022-11-29 Issue:1 Volume:1 Page:
ISSN:2755-1520
Container-title:JCEM Case Reports
language:en
Short-container-title:

Author:

Wyniger Lorena¹^ORCID,Beuret Nicole²,Rutishauser Jonas¹,Seelig Eleonora¹³^ORCID

Affiliation:

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

AbstractHereditary 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.

Publisher

The Endocrine Society

Link

https://academic.oup.com/jcemcr/advance-article-pdf/doi/10.1210/jcemcr/luac023/47560507/luac023.pdf

Reference10 articles.

1. Diabetes insipidus;Christ-Crain;Nat Rev Dis Primers,2019

2. Genetic forms of neurohypophyseal diabetes insipidus;Spiess;Best Pract Res Clin Endocrinol Metab,2020

3. A copeptin-based approach in the diagnosis of diabetes insipidus;Fenske;N Engl J Med,2018

4. Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus—benefit of genetic testing;Hrčková;Eur J Pediatr,2016

5. A de novo mutation in the coding sequence for neurophysin-II (Pro24–>Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus;Repaske;J Clin Endocrinol Metab,1994