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http://dx.doi.org/10.1053/j.ajkd.2023.10.015 | DOI Listing |
J 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.
View Article and Find Full Text PDFNeurosurg Rev
September 2025
Department of Neurologic Surgery, Mayo Clinic, Rochester, MN, USA.
The transsphenoidal approach to sellar lesions is a mainstay technique in modern neurosurgical treatment of pituitary adenomas. One prominent complication following transsphenoidal surgery is the development of postoperative hyponatremia, frequently necessitating additional medical management and hospital readmission. However, the precise incidence and risk factors of postoperative hyponatremia remain unclear in the current literature.
View Article and Find Full Text PDFAm J Med
August 2025
Department of Critical Care Medicine, The Ninth Medical Center of Chinese PLA General Hospital, Beijing, China. Electronic address:
Genes (Basel)
August 2025
Department of Pediatrics and Endocrinology, Medical University of Warsaw, 02-091 Warsaw, Poland.
: Diabetes insipidus (DI) in newborns is an extremely rare condition, with the age of presentation strongly suggesting a genetic background of the disease. The differential diagnosis should include arginine vasopressin deficiency (AVD) and arginine vasopressin resistance (AVR). Some novel diagnostic tools such as copeptin evaluation and genetic tests are vital for early diagnosis.
View Article and Find Full Text PDF