ArticleYonago acta medica2014
Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan.
Article in Yonago acta medica, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 31 citations in OpenAlex.
- Use, efficacy, and safety of desmopressin for congenital nephrogenic diabetes insipidus in children: a nationwide survey.Endocrine journal · 2026Observational
- CANDID Study: Clinical and Molecular Characterization of Congenital Arginine Vasopressin-Resistance and the Use of a Novel Diagnostic Biomarker in Indian Children.Indian journal of pediatrics · 2026Article
- Infantile hypernatremic encephalopathy with osmotic demyelination - a diagnostic dilemma.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Case Report of Nephrogenic Diabetes Insipidus with a Novel Mutation in theInternational journal of molecular sciences · 2025Article
- Construction of arginine vasopressin receptor 2-deficient rats by the rGONAD method.Clinical and experimental nephrology · 2025Article
- Novel AVPR2 mutations in congenital nephrogenic diabetes insipidus: clinical characteristics and genetic analysis.Frontiers in pediatrics · 2025Article
- Lithium-induced Nephrogenic Diabetes Insipidus with Efficacy of Desmopressin in Combination with Thiazide Diuretics and Non-steroidal Anti-inflammatory Drugs: A Case Report with a Review of the Literature.Internal medicine (Tokyo, Japan) · 2024Review
- Central and nephrogenic diabetes insipidus: updates on diagnosis and management.Frontiers in endocrinology · 2024Review
- Perioperative Infusion Management for Adhesive Bowel Obstruction with Congenital Nephrogenic Diabetes Insipidus: A Case Report.Yonago acta medica · 2023Article
- Congenital nephrogenic diabetes insipidus arginine vasopressin receptor 2 gene mutation at new site: A case report.World journal of clinical cases · 2022Article
- LRBA is essential for urinary concentration and body water homeostasis.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Article
- Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus withClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Article
- Activation of AQP2 water channels by protein kinase A: therapeutic strategies for congenital nephrogenic diabetes insipidus.Clinical and experimental nephrology · 2021Review
- Congenital nephrogenic diabetes insipidus accompanied with central nephrogenic diabetes secondary to pituitary surgery -a case report.BMC endocrine disorders · 2021Article
- Review
- NovelClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2019Article
- AKAPs-PKA disruptors increase AQP2 activity independently of vasopressin in a model of nephrogenic diabetes insipidus.Nature communications · 2018Article
- Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to theCase reports in pediatrics · 2018Article
- A need for a systematic genetic evaluation of hereditary polyuric patients.Clinical kidney journal · 2016Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNephrogenic diabetes insipidus (NDI) is a rare disease whose complications include polyuria, renal dysfunction, growth disorder and mental retardation. The details of NDI's clinical course have been unclear. To address this uncertainty, we performed a large investigation of the clinical course of NDI in Japan.
methodsBetween December 2009 and March 2011, we provided a primary questionnaire to 26,282 members of the Japan Endocrine Society, the Japanese Urological Association, the Japanese Society for Pediatric Endocrinology, the Japanese Society for Pediatric Nephrology, the Japanese Society of Nephrology, the Japanese Society of Neurology and the Japanese Society of Pediatric Urology. In addition, we provided a secondary questionnaire to 121 members who reported experience with cases of NDI. We asked about patient's age at onset, diagnosis, complications, effect of treatment and patient's genotype.
resultsWe enrolled 173 patients with NDI in our study. Of these NDI patients, 143 were congenital and 30 were acquired. Of the 173, 73 patients (42%) experienced urologic complications. Among the 143 with congenital NDI, 20 patients (14%) had mental retardation. Patients with NDI mainly received thiazide diuretics, and some patients responded to treatment with desmopressin acetate (DDAVP). Gene analyses were performed in 87 patients (61%) with congenital NDI, revealing that 65 patients had an arginine vasopressin receptor type 2 (AVPR2) gene mutation and that 8 patients (9.2%) had an aquaporin 2 (AQP2) gene mutation. Patients with the AVPR2 mutation (D85N) generally showed a mild phenotype, and we found that DDAVP was generally an effective treatment for NDI among these patients.
conclusionWe suggest that adequate diagnosis and treatment are the most important factors for improving prognoses. We further suggest that gene analysis should be performed for optimal treatment selection and the early detection of NDI among siblings.
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25324589PMC4198574W2115153474What OpenQuestion holds
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