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Tuberous sclerosis complex-associated kidney disease in children.
Pediatr Nephrol
January 2025
PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven, Louvain, Belgium.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder which can have manifestations in the kidneys, along with other organ systems. Children with TSC may develop kidney lesions at any point during childhood, and typically these are angiomyolipomata (AML) and/or kidney cysts. Children may also have hypertension associated with TSC-associated kidney disease, and rarely reduced kidney function.
View Article and Find Full Text PDFProgressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome.
Cureus
August 2024
Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JPN.
Article Synopsis
- - TSC2/PKD1 contiguous gene syndrome results from deletions of the TSC2 and PKD1 genes, causing serious kidney issues like early-onset cystic kidney disease and tuberous sclerosis complex.
- - An infant girl with this syndrome exhibited symptoms including epileptic seizures and underwent imaging that revealed kidney enlargement and cysts, as well as brain abnormalities.
- - Genetic testing confirmed the deletion of the TSC2 and PKD1 genes, highlighting the need for ongoing imaging to monitor kidney changes and manage complications like hypertension.
Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.
Am J Med Genet A
December 2024
Health Research Institute of the Balearic Islands (IdISBa), Genomics of Health research group, Palma, Spain.
Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct disorders typically associated with pathogenic variants in TSC1 and TSC2 for the former and PKD1 and PKD2 for the latter. TSC2 and PKD1 lie adjacent to each other, and large deletions comprising both genes lead to TSC2/PKD1 contiguous gene deletion syndrome (CGS). In this study, we describe a young female patient exhibiting symptoms of TSC2/PKD1 CGS in which genetic analysis disclosed two noncontiguous partial gene deletions in TSC2 and PKD1 that putatively are responsible for the manifestations of the syndrome.
View Article and Find Full Text PDFA child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cysts.
CEN Case Rep
October 2024
Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago, Tottori, 683-8504, Japan.
Tolvaptan, a vasopressin receptor antagonist, has been shown to be effective in the treatment of renal cysts in ADPKD. However, tolvaptan is not indicated for pediatric patients, and reports of its use are rare, making its efficacy and adverse reactions unclear. Herein, we present the case of an 11-year-old girl who had vitiligo from birth.
View Article and Find Full Text PDFTSC2/PKD1 Contiguous Gene Deletion Syndrome.
Clin Pediatr (Phila)
March 2024
Pediatric Surgery Department, Hospital Universitario La Paz, Madrid, Spain.
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