ArticleClinical kidney journal2019
Long-term outcome in inherited nephrogenic diabetes insipidus.
Article in Clinical kidney journal, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 32 citations in OpenAlex.
- 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
- A Case of Misdiagnosed Pediatric Congenital Nephrogenic Diabetes Insipidus due to AQP2 Variants.Case reports in pediatrics · 2026Article
- Infant Nephrogenic Diabetes Insipidus: Challenges Leading to Delayed Management.Case reports in medicine · 2026Article
- Clinical outcomes among children with primary nephrogenic diabetes insipidus.Clinical kidney journal · 2025Article
- A Novel Pathogenic Variant of theGenes · 2025Article
- Article
- The natural history of untreated X-linked nephrogenic diabetes insipidus with mutation in the vasopressin V2 receptor gene.CEN case reports · 2025Article
- 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
- Central and nephrogenic diabetes insipidus: updates on diagnosis and management.Frontiers in endocrinology · 2024Review
- Refractory Massive Ascites: An Unusual Presentation of Nephrogenic Diabetes Insipidus.Kidney international reports · 2022Article
- Clinical, Genetic and Functional Characterization of a NovelJournal of personalized medicine · 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
- Brain dysfunction in tubular and tubulointerstitial kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Review
- Nephrogenic diabetes insipidus in children (Review).Experimental and therapeutic medicine · 2021Review
- Article
- Clinical and Functional Characterization of a Novel Mutation inFrontiers in pediatrics · 2021Article
- Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.Frontiers in pediatrics · 2021Article
- Diagnosis, Treatment, and Outcomes in Children With Congenital Nephrogenic Diabetes Insipidus: A Pediatric Nephrology Research Consortium Study.Frontiers in pediatrics · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInherited nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by impaired urinary concentrating ability. Little clinical data on long-term outcome exists.
methodThis was a single-centre retrospective medical record review of patients with a diagnosis of NDI followed between 1985 and 2017. We collected available data on growth, weight, school performance, complications and comorbidities.
resultsWe identified 36 patients with available data and a clinical diagnosis of NDI, which was genetically confirmed in 33 of them. Patients presented at a median age of 0.6 years and median length of follow-up was 9.5 years. Chief symptoms at presentation were faltering growth, vomiting/feeding concerns, polyuria/polydipsia, febrile illness and hypernatraemic dehydration. Median weight standard deviation scores (SDS) improved from -2.1 at presentation to 0.2 at last follow-up. In contrast, height SDS remained essentially unchanged at -1.1 at presentation and -0.9 at last follow-up. Most patients were treated with prostaglandin synthesis inhibitors and thiazides, yet weaned off during school age without an obvious change in urine output. Median estimated glomerular filtration rate at last follow-up was 81 mL/min/1.73 m
conclusionThe overall prognosis in inherited NDI is favourable with regular treatment. As expected, most complications were related to polyuria. There is an apparent loss of efficacy of medications during school age. Our data inform the prognosis and management of patients with NDI.
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