ReviewInternational journal of molecular sciences2017
Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.
Review in International journal of molecular sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 87 citations in OpenAlex.
- Use, efficacy, and safety of desmopressin for congenital nephrogenic diabetes insipidus in children: a nationwide survey.Endocrine journal · 2026Observational
- Identification of a novel large deletion mutation in theTranslational pediatrics · 2026Article
- Arginine Vasopressin Deficiency and Oxytocin Deficiency in the Endocrine Clinic.The Journal of clinical endocrinology and metabolism · 2026Review
- Clinical and genetic analysis of X-linked nephrogenic diabetes insipidus caused by a novelIntractable & rare diseases research · 2025Article
- Case Report of Nephrogenic Diabetes Insipidus with a Novel Mutation in theInternational journal of molecular sciences · 2025Article
- The natural history of untreated X-linked nephrogenic diabetes insipidus with mutation in the vasopressin V2 receptor gene.CEN case reports · 2025Article
- Current treatment of hereditary nephrogenic diabetes insipidus in children.Childhood kidney diseases · 2025Review
- Nephrogenic Diabetes Insipidus Affecting Three Males in Two Generations-Case Report and Review of the Literature.Children (Basel, Switzerland) · 2025Article
- A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation.International medical case reports journal · 2025Article
- Autosomal dominant nephrogenic diabetes insipidus in one family caused by a novel AQP2 mutation.Nephrology (Carlton, Vic.) · 2024Review
- A Rare Case of Congenital Nephrogenic Diabetes Insipidus Associated with Aquaporin 2 Gene Mutation and Subsequent Acute Lymphoblastic Leukemia: Impact of Steroids on Kidney Function.The American journal of case reports · 2024Article
- The β3-AR agonist BRL37344 ameliorates the main symptoms of X-linked nephrogenic diabetes insipidus in the mouse model of the disease.Journal of cellular and molecular medicine · 2024Article
- TRPML1 acts as a predisposing factor in lymphedema development by regulating the subcellular localization of aquaporin-3, -5.PloS one · 2024Article
- Central and nephrogenic diabetes insipidus: updates on diagnosis and management.Frontiers in endocrinology · 2024Review
- Structural and functional analysis of aquaporin-2 mutants involved in nephrogenic diabetes insipidus.Scientific reports · 2023Article
- [Clinical and laboratory characteristics of arginine vasopressin resistance, caused by a new homozygous mutation p.R113C in AQP2].Problemy endokrinologii · 2023Article
- TRPML1-Induced Lysosomal CaInternational journal of molecular sciences · 2023Article
- β3 Adrenergic Receptor Agonist Mirabegron Increases AQP2 and NKCC2 Urinary Excretion in OAB Patients: A Pleiotropic Effect of Interest for Patients with X-Linked Nephrogenic Diabetes Insipidus.International journal of molecular sciences · 2023Article
- V2 vasopressin receptor mutations: future personalized therapy based on individual molecular biology.Frontiers in endocrinology · 2023Review
- Congenital nephrogenic diabetes insipidus arginine vasopressin receptor 2 gene mutation at new site: A case report.World journal of clinical cases · 2022Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Under physiological conditions, excessive loss of water through the urine is prevented by the release of the antidiuretic hormone arginine-vasopressin (AVP) from the posterior pituitary. In the kidney, AVP elicits a number of cellular responses, which converge on increasing the osmotic reabsorption of water in the collecting duct. One of the key events triggered by the binding of AVP to its type-2 receptor (AVPR2) is the exocytosis of the water channel aquaporin 2 (AQP2) at the apical membrane the principal cells of the collecting duct. Mutations of either AVPR2 or AQP2 result in a genetic disease known as nephrogenic diabetes insipidus, which is characterized by the lack of responsiveness of the collecting duct to the antidiuretic action of AVP. The affected subject, being incapable of concentrating the urine, presents marked polyuria and compensatory polydipsia and is constantly at risk of severe dehydration. The molecular bases of the disease are fully uncovered, as well as the genetic or clinical tests for a prompt diagnosis of the disease in newborns. A real cure for nephrogenic diabetes insipidus (NDI) is still missing, and the main symptoms of the disease are handled with s continuous supply of water, a restrictive diet, and nonspecific drugs. Unfortunately, the current therapeutic options are limited and only partially beneficial. Further investigation in vitro or using the available animal models of the disease, combined with clinical trials, will eventually lead to the identification of one or more targeted strategies that will improve or replace the current conventional therapy and grant NDI patients a better quality of life. Here we provide an updated overview of the genetic defects causing NDI, the most recent strategies under investigation for rescuing the activity of mutated AVPR2 or AQP2, or for bypassing defective AVPR2 signaling and restoring AQP2 plasma membrane expression.
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