We report a case of end stage renal disease in association with bilateral renal angiomyolipomas (RAML). There were no features suggestive of tubercous sclerosis (TS). Renal angiomyolipomas were detected incidentally, patient being asymptomatic for the same. She is being evaluated for live related kidney transplant.
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Urol Pract
December 2024
Urology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.
Purpose: This retrospective study furthers our understanding of risk factors associated with hemorrhage and intervention in renal angiomyolipomas (R-AMLs), particularly in larger tumors (≥ 4 cm) and in childbearing-age (CBA; younger than 50 years) women. The objective was to refine risk stratification and optimize patient management.
Methods: Review of our institutional database identified patients with radiographic R-AML from 1997 to 2023.
BMJ Case Rep
January 2025
Medicine, Government Medical College Kota, Kota, Rajasthan, India.
This case report presents markedly different clinical and radiological manifestations of the same disease in a family over three consecutive generations with varying treatment strategies. The index case/proband primarily presented with gastrointestinal symptoms, including diarrhoea, bleeding per rectum and seizures. Further evaluation revealed bilateral renal angiomyolipoma and cerebral subependymal nodules, in conjunction with facial adenoma sebaceum, periungual fibromas and hypomelanotic ash-leaf macules.
View Article and Find Full Text PDFFr J Urol
January 2025
Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, USA.
Objective: To analyze clinical and radiological features and trends in the management pattern of renal angiomyolipomas (AML) in a tertiary care center over a 30-year period.
Patients And Methods: We retrospectively reviewed the charts of patients referred to our institutions from 1992 to 2022 with final diagnosis of AML. Demographics, clinical presentation, radiological findings, renal function status, and treatment options were recorded.
Ann Diagn Pathol
January 2025
Stanford Medical Center; Stanford, CA, United States of America.
Gamna-Gandy (GG) bodies are sclerosiderotic nodules composed of iron pigment and calcium, that have been described predominantly in the spleens of patients with sickle cell disease. Their formal depiction in the kidney is mainly limited to case reports and small series. We aimed to investigate the incidence of GG bodies and associated clinicopathologic features in consecutive nephrectomies performed for renal tumors.
View Article and Find Full Text PDFEpilepsia
January 2025
Department of Neurosciences, Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada.
Objective: Tuberous sclerosis complex (TSC) is a monogenetic disorder associated with sustained mechanistic target of rapamycin (mTOR) activation, leading to heterogeneous clinical manifestations. Epilepsy and renal angiomyolipoma are the most important causes of morbidity in adult people with TSC (pwTSC). mTOR is a key player in inflammation, which in turn could influence TSC-related clinical manifestations.
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