Upper tract urothelial carcinoma represents a small proportion (5%-10%) of all urothelial cancers. Although there are several management options, in undifferentiated or high-risk cases, surgery in the form of nephroureterectomy is the gold standard. Horseshoe kidney is the most common congenital renal fusion anomaly affecting 1 in 400-600 patients. We present the case of a smoker in her mid-50s with an incidental finding of a papillary lesion in the right renal pelvis of her horseshoe kidney on CT scan. She went on to have endoscopic assessment confirming no other foci of disease. She was definitively managed with a robotic nephroureterectomy.
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http://dx.doi.org/10.1136/bcr-2020-234901 | DOI Listing |
Am J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Surgery, School of Medicine, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Background: Horseshoe kidney is the most common renal fusion anomaly, occurring in approximately 1 in 500 individuals worldwide. It is characterized by abnormalities in kidney position, rotation, and vascular supply. While often asymptomatic, horseshoe kidneys can lead to urological complications, primarily due to ureteric obstruction and impaired urinary drainage.
View Article and Find Full Text PDFSaudi Med J
January 2025
From the Department of Surgery (Ayed), from Department of Urology (Alwadai), King Abdullah Hospital, Ministry of Health, Bisha, Kingdom of Saudi Arabia, from the Department of Anatomy (Rezigalla), College of Medicine, University of Bisha.
The horseshoe kidney (HSK) is a common renal abnormality mostly asymptomatic. This may be linked to chromosomal and organ anomalies. A 27-year-old male patient presented with mild recurrent lower abdominal pain associated with dysuria.
View Article and Find Full Text PDFAdv Anat Pathol
November 2024
Department of Radiology, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, Brazil.
Horseshoe kidney is a rare congenital anomaly with an unusually higher frequency of neuroendocrine tumors. Symptoms are rare, and, in most of the cases, are incidentally diagnosed. The clinical behavior of these tumors is heterogeneous and can be difficult to predict based on histology alone.
View Article and Find Full Text PDFClin Exp Nephrol
December 2024
Department of Pediatric Nephrology, Ulus Maternity and Child Health and Diseases Training and Research Hospital, Dr. Sami, Ankara, Turkey.
Background: Patients diagnosed with congenital kidney malformations are at an increased risk of developing hypertension, proteinuria, and progressing to chronic kidney disease (CKD). The present study aimed to determine the frequency of masked hypertension and ambulatory arterial stiffness index (AASI) in patients with congenital kidney malformations.
Methods: The study included 174 patients with congenital kidney malformations (48 patients with unilateral renal agenesis (URA), 40 patients with ectopic kidney (EK), 36 patients with horseshoe kidney (HK), 31 patients with multicystic dysplastic kidney (MCDK), 19 patients with unilateral renal hypoplasia (URH), and 45 healthy controls.
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