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Autoimmune Tubulopathies.
J Am Soc Nephrol
January 2025
Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université Paris Cité, F-75006 Paris, France.
The renal tubule and collecting duct express a large number of proteins, all having putative immunoreactive motives. Therefore, all can be the target of pathogenic autoantibodies. However, autoimmune tubulopathies seem to be rare and we hypothesize that they are underdiagnosed.
View Article and Find Full Text PDFEvaluate the renal system damage caused by zoledronic acid: a comprehensive analysis of adverse events from FAERS.
BMC Cancer
December 2024
Department of Thoracic Surgery, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
Background: Zoledronic acid (ZA) is widely used for the treatment of osteolytic bone metastases in malignancies and osteoporosis, but it has been associated with renal impairment. In this study, we investigated adverse events (AEs) related to renal and urinary system diseases associated with ZA using the U. S.
View Article and Find Full Text PDFNephrogenic diabetes insipidus results from a novel in-frame deletion of gene in monozygotic-twin boys and their mother and grandmother.
J Pediatr Endocrinol Metab
December 2024
Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
Objectives: Mutations in the gene are the most common cause of nephrogenic diabetes insipidus(NDI). In-frame deletions of the gene are a rare variant that results in NDI. We report a novel variant of the p.
View Article and Find Full Text PDFThe natural history of untreated X-linked nephrogenic diabetes insipidus with mutation in the vasopressin V2 receptor gene.
CEN Case Rep
December 2024
Department of Woman, Child and of General and Specialized Surgery, Università degli studi della Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, 80138, Naples, Italy.
Nephrogenic diabetes insipidus (NDI) results from the kidneys' inability to concentrate urine. We describe a 6-month-old male with a history of poor weight gain who presented with an incidental finding of hypernatremia (155 mEq/L) during an episode of acute gastroenteritis. The arginine vasopressin (AVP) test, along with molecular analysis revealing the M272R mutation in the AVP receptor 2 (AVPR2) gene, confirmed the diagnosis of congenital NDI.
View Article and Find Full Text PDFGenetic Etiology Investigation in Treatment-Resistant Nocturnal Enuresis Children: A descriptive study.
Urol J
December 2024
Health Sciences University Umraniye Training and Research Hospital, Department of Medical Genetics, Istanbul, Turkey.
Article Synopsis
- The study aimed to identify genetic factors contributing to treatment-resistant nocturnal enuresis in children who had already undergone various therapies.
- Twenty-one patients aged 5-18 with treatment-resistant enuresis were analyzed using a specialized genetic panel that included 19 genes associated with the condition.
- Results showed that 20 patients had no significant genetic changes, while one patient had a variant in the AQP2 gene, suggesting that nocturnal enuresis is likely influenced by multiple factors rather than a single genetic cause.
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