ReviewPediatric nephrology (Berlin, Germany)2012
Congenital nephrogenic diabetes insipidus: the current state of affairs.
Review in Pediatric nephrology (Berlin, Germany), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
59 citing papers in PubMed, 122 citations in OpenAlex.
- X-Linked Nephrogenic Diabetes Insipidus Associated with the AVPR2 c.964C>T (p.Pro322Ser) Variant: A Family Case Series.Journal of clinical medicine · 2026Article
- Late Diagnosis of X-Linked Arginine Vasopressin Resistance Presenting With Flow Uropathy in Adulthood.JCEM case reports · 2025Article
- Clinical and genetic analysis of X-linked nephrogenic diabetes insipidus caused by a novelIntractable & rare diseases research · 2025Article
- Article
- Advancing precision care in pregnancy through a treatable fetal findings list.American journal of human genetics · 2025Review
- 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
- International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance).Nature reviews. Nephrology · 2025Review
- Novel AVPR2 mutations in congenital nephrogenic diabetes insipidus: clinical characteristics and genetic analysis.Frontiers in pediatrics · 2025Article
- 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
- 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
- Protein Structure and Modification of Aquaporins.Advances in experimental medicine and biology · 2023Article
- Expression Regulation and Trafficking of Aquaporins.Advances in experimental medicine and biology · 2023Review
- 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
- [Family form of nephrogenic X-linked diabetes indiabetes].Problemy endokrinologii · 2022Article
- Functional Rescue of a Nephrogenic Diabetes Insipidus Causing Mutation in the V2 Vasopressin Receptor by Specific Antagonist and Agonist Pharmacochaperones.Frontiers in pharmacology · 2022Article
- The Use of Indomethacin for Nocturnal Enuresis in Children With Nephrogenic Diabetes Insipidus: A Case Report and Review of the Literature.Canadian journal of kidney health and disease · 2022Article
- Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.Journal of endocrinological investigation · 2021Article
- Nephrogenic diabetes insipidus in children (Review).Experimental and therapeutic medicine · 2021Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The anti-diuretic hormone arginine vasopressin (AVP) is released from the pituitary upon hypovolemia or hypernatremia, and regulates water reabsorption in the renal collecting duct principal cells. Binding of AVP to the arginine vasopressin receptor type 2 (AVPR2) in the basolateral membrane leads to translocation of aquaporin 2 (AQP2) water channels to the apical membrane of the collecting duct principal cells, inducing water permeability of the membrane. This results in water reabsorption from the pro-urine into the medullary interstitium following an osmotic gradient. Congenital nephrogenic diabetes insipidus (NDI) is a disorder associated with mutations in either the AVPR2 or AQP2 gene, causing the inability of patients to concentrate their pro-urine, which leads to a high risk of dehydration. This review focuses on the current knowledge regarding the cell biological aspects of congenital X-linked, autosomal-recessive and autosomal-dominant NDI while specifically addressing the latest developments in the field. Based on deepened mechanistic understanding, new therapeutic strategies are currently being explored, which we also discuss here.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.