Pugh Jessica, Huffaker R Keith
Department of Obstetrics and Gynecology, Quillen College of Medicine, East Tennessee State University, Johnson City, TN, USA.
Division of Female Pelvic Medicine and Reconstructive Surgery, Department of Obstetrics and Gynecology, Quillen College of Medicine, East Tennessee State University, Johnson City, TN, USA.
Case Rep Urol. 2017;2017:9298565. doi: 10.1155/2017/9298565. Epub 2017 Apr 11.
A 22-year-old nulligravid white female with Angelman syndrome was noted to have a 4-month history of premenstrual nausea, vomiting, and abdominal pain. She had an echogenic focus in her bladder noted on ultrasound. She was diagnosed with low grade urothelial carcinoma after cystoscopic evaluation with biopsy and was sent to urology for further treatment. Urothelial carcinoma is rare in individuals younger than age 40. Patients may present with gross hematuria. There is often a delay in diagnosis in younger individuals with different genetic mutations noted upon diagnosis.
一名22岁未孕的患有天使综合征的白人女性，有4个月的经前恶心、呕吐和腹痛病史。超声检查发现她膀胱内有一个强回声灶。经膀胱镜评估及活检后，她被诊断为低级别尿路上皮癌，并被送往泌尿外科进一步治疗。尿路上皮癌在40岁以下的个体中很少见。患者可能出现肉眼血尿。在诊断时发现有不同基因突变的年轻个体中，诊断往往会延迟。
