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Recent data show that patients with a diagnosis of diabetes insipidus (DI) are coming to harm. Here we give the rationale for a name change to arginine vasopressin deficiency and resistance for central and nephrogenic DI, respectively.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9759163 | PMC |
http://dx.doi.org/10.1210/clinem/dgac547 | DOI Listing |
Pediatr Nephrol
September 2025
Pediatric Nephrology Department, Biobizkaia Health Research Institute, Cruces University Hospital, Barakaldo, Spain.
Copeptin, a stable glycopeptide derived from the precursor of arginine vasopressin (AVP), has emerged as a valuable surrogate biomarker for AVP due to its stability and ease of measurement. This narrative review explores the physiological role of copeptin, its utility as a diagnostic and prognostic biomarker in different kidney diseases, and its clinical relevance in renal tubular disorders. The clinical application of copeptin as a diagnostic biomarker is best established in the differential diagnosis of polyuria-polydipsia syndrome (PPS), distinguishing nephrogenic diabetes insipidus (NDI) from central diabetes insipidus (CDI) and primary polydipsia (PP).
View Article and Find Full Text PDFCureus
August 2025
Pediatric Nephrology, Hospital Pediátrico, Unidade Local de Saúde de Coimbra, Coimbra, PRT.
Introduction Nephrogenic diabetes insipidus (NDI) is a rare condition caused by renal resistance to the action of antidiuretic hormone (ADH) at the level of the distal tubule, resulting in impaired urinary concentration and consequent polyuria. NDI may be hereditary, most commonly X-linked due to AVPR2 gene mutations, or acquired. Objective To characterize the clinical features, management strategies, and outcomes of patients with NDI followed at a tertiary pediatric nephrology center.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
September 2025
Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Background: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by severe multisystem comorbidities and increased mortality. Although growth hormone therapy (GHT) is widely used as standard care, population-based evidence on its long-term safety, particularly in relation to mortality and type 2 diabetes mellitus (T2DM), remains limited. We aimed to investigate the associations between GHT duration, mortality, and T2DM incidence in PWS.
View Article and Find Full Text PDFJ Pediatr Hematol Oncol
September 2025
Department of Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust.
Adamantinomatous craniopharyngiomas (ACPs) are rare, sellar-suprasellar benign tumors that cause considerable morbidity and mortality due to local invasion and treatment-related damage to surrounding structures, including central diabetes insipidus (CDI). Trametinib is a highly selective inhibitor of MEK1 and MEK2, which has been evaluated in both adult and pediatric cancers/ tumors with activation of the oncogenic mitogen-activated protein kinase (MAPK) pathway. Despite being thought to have fewer side effects than conventional cytotoxic chemotherapy, off-target toxicities such as hyponatremia have been described.
View Article and Find Full Text PDFIntractable Rare Dis Res
August 2025
Endocrinology, SBMS, Faculty of Medicine, The University of Queensland, St Lucia, Australia.
X-linked nephrogenic diabetes insipidus (X-NDI) is a rare congenital disease caused by inactivating mutations of the vasopressin type-2 receptor (), characterized by impaired renal concentrating ability, dramatic polyuria, polydipsia and risk of dehydration. This study aims to elucidate the pathogenic mechanisms associated with a novel variant in the gene, which has been implicated in X-NDI. Whole exome sequencing (WES) was employed to identify genetic variants, complemented by bioinformatic analyses to predict the functional impact of these mutations.
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