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Adult-onset female focal segmental glomerulosclerosis with nephrotic syndrome caused by a variant: a case report.
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 PDFClinicopathological features and medium-term outcomes of histologic variants of primary focal segmental glomerulosclerosis in adults: A retrospective study.
World J Nephrol
March 2024
Department of Pathology, Sindh Institute of Urology and Transplantation, Sindh, Karachi 74200, Pakistan.
Background: The Columbia classification identified five histological variants of focal segmental glomerulosclerosis (FSGS). The prognostic significance of these variants remains controversial.
Aim: To evaluate the relative frequency, clinicopathologic characteristics, and medium-term outcomes of FSGS variants at a single center in Pakistan.
Exploring kidney biopsy findings in congenital heart diseases: Insights beyond cyanotic nephropathy.
World J Nephrol
March 2024
Department of Nephrology, Instituto Nacional de Cardiología Ignacio Chavez, Mexico City 14080, Mexico.
Background: The association between congenital heart disease and chronic kidney disease is well known. Various mechanisms of kidney damage associated with congenital heart disease have been established. The etiology of kidneydisease has commonly been considered to be secondary to focal segmental glomerulosclerosis (FSGS), however, this has only been demonstrated in case reports and not in observational or clinical trials.
View Article and Find Full Text PDFPerihilar FSGS lesions originate from flat parietal epithelial cells.
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Division of Nephrology and Clinical Immunology, RWTH Aachen University Hospital, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
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View Article and Find Full Text PDFA Study of Focal and Segmental Glomerulosclerosis according to the Columbia Classification and Its Correlation with the Clinical Outcome.
J Lab Physicians
September 2023
Department of Histopathology, Apollo Hospitals, Hyderabad, Telangana, India.
Focal and segmental glomerulosclerosis (FSGS) is a leading cause of nephrotic syndrome in both adults and children. The "Columbia classification of FSGS" includes five variants; not otherwise specified (NOS), tip, perihilar, cellular, and collapsing variants that may have different prognostic and therapeutic implications. This is a retrospective study and was carried out in the Department of Histopathology, Apollo Hospitals, Hyderabad.
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