Literature DB >> 28476225

Genetics of Diabetes Insipidus.

Marie Helene Schernthaner-Reiter1, Constantine A Stratakis2, Anton Luger3.   

Abstract

Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland (neurohypophyseal diabetes insipidus) or due to arginine vasopressin insensitivity by the renal distal tubule, leading to a deficiency in tubular water reabsorption (nephrogenic diabetes insipidus). This article reviews the genetics of diabetes insipidus in the context of its diagnosis, clinical presentation, and therapy.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Aquaporin 2; Arginine vasopressin; Arginine vasopressin receptor type 2; Familial nephrogenic diabetes insipidus; Familial neurohypophyseal diabetes insipidus; Wolfram syndrome

Mesh:

Substances:

Year:  2017        PMID: 28476225     DOI: 10.1016/j.ecl.2017.01.002

Source DB:  PubMed          Journal:  Endocrinol Metab Clin North Am        ISSN: 0889-8529            Impact factor:   4.741


  7 in total

1.  Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus.

Authors:  Ji-Shi Liu; Hao Huang; Jie-Yuan Jin; Ran Du; Chen-Yu Wang; Liang-Liang Fan
Journal:  Mol Syndromol       Date:  2020-03-28

Review 2.  Nephrogenic diabetes insipidus in children (Review).

Authors:  Carmen Duicu; Ana Maria Pitea; Oana Maria Săsăran; Iulia Cozea; Lidia Man; Claudia Bănescu
Journal:  Exp Ther Med       Date:  2021-05-11       Impact factor: 2.447

3.  Genetic Variants of the Receptor for Advanced Glycation End-products in Susceptibility to Type 2 Diabetes Mellitus in Primary Hypertensive Patients.

Authors:  Hualing Yang; Yangyang Nie; Zhenyi Chen; Linyang Ye; Qingxiang Wang; Zhanxiang Wang
Journal:  Sci Rep       Date:  2017-12-08       Impact factor: 4.379

Review 4.  Diabetes Insipidus: Pathogenesis, Diagnosis, and Clinical Management.

Authors:  Cody M Mutter; Trevor Smith; Olivia Menze; Mariah Zakharia; Hoang Nguyen
Journal:  Cureus       Date:  2021-02-23

5.  Congenital nephrogenic diabetes insipidus accompanied with central nephrogenic diabetes secondary to pituitary surgery -a case report.

Authors:  Wei Zhang; Yimin Shen; Yuezhong Ren; Yvbo Xin; Lijun Wang
Journal:  BMC Endocr Disord       Date:  2021-04-21       Impact factor: 2.763

Review 6.  The Intricate Relationship between Type 2 Diabetes Mellitus (T2DM), Insulin Resistance (IR), and Nonalcoholic Fatty Liver Disease (NAFLD).

Authors:  Daniela Maria Tanase; Evelina Maria Gosav; Claudia Florida Costea; Manuela Ciocoiu; Cristina Mihaela Lacatusu; Minela Aida Maranduca; Anca Ouatu; Mariana Floria
Journal:  J Diabetes Res       Date:  2020-07-31       Impact factor: 4.011

7.  Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel missense mutation in AVP gene in a large Italian kindred.

Authors:  Maria Grazia Castagna; Marco Capezzone; Carlotta Marzocchi; Silvia Cantara; Alfonso Sagnella
Journal:  Endocrine       Date:  2021-07-28       Impact factor: 3.633

  7 in total

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