Three cases of xanthinuria identified by gas chromatography/mass spectrometry-based urine metabolomics.

Introduction: Early diagnosis of patients with urolithiasis or hypouricemia owing to inborn errors of hypoxanthine metabolism is important in preventing renal failure or drug-induced toxicity. Case presentation: We identified three patients with xanthinuria using gas chromatography/mass spectrometry-based urine metabolomics: a 72-year-old male with bladder stone, a severe hypouricemic 59-year-old female with type 2 diabetes mellitus, and an 8-year and 9-month-old female who was first discovered to harbor a mutation in the xanthine dehydrogenase gene using whole-exome sequencing, but had a normal molybdenum cofactor sulfurase gene. Hydantoin-5-propionate was detected in the first and third patients but not in the second, suggesting that the first and second patients had type I and II xanthinuria, respectively. Conclusion: Gas chromatography/mass spectrometry-based metabolomics can be used for undiagnosed patients with xanthinuria, identification of the type of xanthinuria without allopurinol loading, and the quick functional evaluation of mutations in the xanthinuria-related genes.

Prevalence of human papillomavirus infection in the urinary tract of men with urethritis.

OBJECTIVES: To investigate the prevalence of human papillomavirus (HPV) in the genital and urinary tract of men with urethritis. METHODS: Cell samples were collected from the penis, urethra and urine of 142 men with urethritis. A HPV test was performed on the samples using the modified GP5+/6+ polymerase chain reaction method, and the HPV genotype was determined using a HPV GenoArray test. RESULTS: Out of 142 urethritis patients, HPV was detected in 48% (68 cases), and high-risk HPV was found in 32% (46 cases) of patients, on their penis or in the urinary tract (urethra or urine). HPV was detected in 31% in the penis, 20% in the urethra and 24% in the urine, while high-risk HPV was identified in 23% in the penis, 12% in the urethra and 11% in the urine. Among the HPV-positive men, 66% had HPV infection in the urinary tract where the most common HPV types were HPV6, HPV16, HPV18 and HPV58. Single HPV-type infection was more frequently found in the urinary tract (89%) than in the penis (65%) (P < 0.05). CONCLUSIONS: Similar to the penis, the urinary tract represents a common HPV infection site in men with urethritis.

Primary adenocarcinoma in the bladder diverticulum.

A 77-year-old man was referred to the urological clinic with asymptomatic gross hematuria. Cystoscopy revealed a papillary tumor within the diverticulum of the bladder. A transurethral resection was performed and histopathological examination revealed adenocarcinoma. One month later, partial cystectomy was performed and histopathological examination indicated goblet cell metaplasia without residual tumor cells. The patient is currently well with no evidence of tumor.

[A case of Sertoli cell tumor].

We report a case of Sertoli cell tumor. A 33-year-old man visited our clinic with a complaint of painless left scrotal swelling on September 29th, 2003. An elastic firm induration larger than a hen's egg in size was palpable on the surface of the left testis. Tumor markers for testicular tumor such as human chorionic gonadotropin-beta, alpha fetoprotein, and lactate dehydrogenase were not elevated. However, ultrasound showed a low echoic mass in the left testis. Therefore, we performed left high orchiectomy under the diagnosis of left testicular tumor. Its histology showed Sertoli cell tumor. Neither recurrence nor metastasis has been detected for about 8 months after the operation.