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http://dx.doi.org/10.1097/00007890-198804000-00033 | DOI Listing |
Clin Kidney J
December 2024
Division of Nephrology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
We report the case of a 49-year-old Chinese woman with nephrotic syndrome, characterized by normal kidney function but poor response to hormonal and immunosuppressive therapy, indicative of steroid-resistant nephrotic syndrome. Through renal biopsy, the patient was diagnosed as havingfocal segmental glomerulosclerosis (perihilar type), and subsequent whole-exome sequencing identified a pathogenic frameshift variant concerning the TBC domain of the gene. This patient represents the first late-onset Chinese female who was found to carry a novel, pathogenic variant in the gene .
View Article and Find Full Text PDFClin Kidney J
August 2024
Department of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Background: Idiopathic nephrotic syndrome (NS) in children poses treatment challenges, with a subset developing steroid-resistant nephrotic syndrome (SRNS). Genetic factors play a role, yet data on paediatric SRNS genetics in India are scarce. We conducted a prospective study using whole-exome sequencing to explore genetic variants and their clinical correlations.
View Article and Find Full Text PDFJ Pak Med Assoc
March 2024
Department of Paediatric Nephrology, Sindh Institute of Urology and Transplantation (SIUT), Karachi, Pakistan.
Clin Pediatr (Phila)
October 2024
Department of Pediatric Nephrology, School of Medicine, Marmara University, Istanbul, Turkey.
We aimed to evaluate the clinical parameters, histopathological findings of nephrotic syndrome (NS) patients, and independent factors predicting steroid resistance in a single tertiary center. One hundred and sixty-two children (57 girls and 105 boys) with NS who were followed between 1998 and 2018 were analyzed in this retrospective cohort. The median (interquartile range; range) age and follow-up time were 4.
View Article and Find Full Text PDFStrahlenther Onkol
September 2024
Isfahan Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Delayed radiation myelopathy (DRM) is a rare yet severe complication of radiotherapy. This condition has a progressive pattern that is often irreversible. Several therapeutic strategies have been introduced to alleviate disease complications, including corticosteroids, hyperbaric oxygen, anticoagulants, and antivascular endothelial growth factor (VEGF) agents.
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