[2,8-dihydroxyadenine urolithiasis: case report and literature review]. / Calcolosi di 2,8-diidrossiadenina. Descrizione di un caso clinico e revisione della letteratura.

INTRODUCTION: 2,8-Dihydroxyadenine (DHA) urolithiasis is a rare type of urinary stone disease secondary to deficiency of adenine phosphoribosyltransferase (APRT) activity, a rare, inherited autosomal recessive disease with an incidental rate from 0.4 to 1.2%. The prevalence is higher among Japanese than other ethnic groups. APRT normally catalyzes the conversion of adenine to adenosine monophosphate and its deficiency results in 2,8-dihydroxyadenine (2,8-DHA) accumulation. This compound is extremely insoluble and its crystallization can lead to stone formation and renal failure. We report the case of 2,8-dihydroxyadenine (DHA) urolithiasis in a 52-year-old male patient. MATERIAL AND METHODS: In December 2008 a 52-year-old Caucasian man was admitted to our hospital with sudden pain in the left lumbar region. Abdominal X-ray did not show any radiopaque urinary stone. I.V. pielography showed a radiolucent left lumbar ureteral (0.6 mm) and renal (1.5 cm) stone. After therapy with tamsulosin, the ureteral stone was excreted. Successful ESWL treatment was performed for renal stone. He presented a clinical history of several episodes of bilateral renal colic and two prior ESWL treatment for radiolucent stones. Chemolitholysis was never successful. RESULTS. Stone analysis by infrared spectroscopy and microscopic examination of urine reveal typical 2,8-DHA crystals. APRT deficiency was detected in the hemolysate of erythrocyte. Partial deficiency of APRT in the patient's relatives showed heterozygosity of the enzyme defect. Allopurinol therapy successfully prevented further stone formation. 20 months later the patient remains stone free. CONCLUSION: Two types of deficit are commonly distinguished, depending on the level of residual APRT activity. Type I is complete enzyme deficiency. Type II shows residual activity in cell lysates, but enzyme activity is not demonstrable in intact cells. About 78% of the Japanese patients belong to type II. The diagnosis of the disease is based on stone analysis by infrared spectroscopy or microscopic examination of urine, which may reveal typical 2,8-DHA crystals. Molecular approach can identify mutations, which are responsible of this inherited disease. Excessive water intake, restriction of foods with high adenine contents and administration of allopurinol are useful treatments. APRT deficiency is a rare disease but we can consider this pathology in case of recurrent radiolucent stones after chemolitolysis.

Kidney hibernoma: case report and literature review.

OBJECTIVES: Hibernomas are rare benign tumours originating from the brown adipose tissue. They occur generally in adults with a peak incidence in the third decade and with a slightly predominance in women. They are benign tumor that does not recur with complete excision. CT and RM images should not be misdiagnosed with atypical lipomas or well-differentiated liposarcoma. We report a case of incidental renal hibernoma discovered in a 51 years old women during open surgery for kidney pielic stone. CASE REPORT: A 51-year-old woman presenting with recurrent left flank pain was diagnosed with left kidney stone. Abdomen ultrasound and i.v. pyelografy showed pyelic stone of 2 cm without other pathologies of the urinary tract. Patient underwent left percutaneus lithitripsy complicated by severe bleeding. We converted into open surgery and incidentally we observed a brown, well-defined, encapsulated, and mobile mass of 1 cm that resulted to adhere to kidney capsule. We removed this lesion respecting surgical borders. Intraoperative histological examination revealed cells with eosinofil cytoplasm and no evidence of mitosis or cellular atypia. Definitive histological examination show a well-circumscribed, encapsulated tumor, with large cells with central nuclei and multivacuolated granular cytoplasm. A rich vascular network was present absence of mitosis or atypia was confirmed. Histological diagnosis presumed hibernoma. CONCLUSION: Our case report results one of the few cases of renal localisation of hibernoma that however need a surgical treatment.

[Fibromyxoid sarcoma of the kidney. A case report]. / Sarcoma fibromixoide del rene.

Low grade fibromyxoid sarcoma is an uncommon soft tissue tumor. We present the case of a 83-year-old female who developed large mass in the right kidney. A nephrectomy was performed. The tumor measured 18,5x17,5x11,5 cm and on pathology evaluation was diagnosed as low grade fibromyxoid sarcoma. Currently, the patient is doing well without evidence of local recurrence and distant metastasis. Low grade fibromyxoid sarcoma of the Kidney is a very rare tumor. The metastasizing potential is high. Sometimes long interval between tumor presentation and metastasis is observed. The treatment of choice is surgery. The role of radiotherapy and chemotherapy is uncertain.

Morbidity and quality of life in elderly patients receiving ileal conduit or orthotopic neobladder after radical cystectomy for invasive bladder cancer.

OBJECTIVES: The objectives of the study were to evaluate morbidity, survival, and quality of life (QoL) in elderly patients with invasive bladder cancer who received an orthotopic neobladder or an ileal conduit. METHODS: The charts of 85 patients, aged 75 or older (median age 78), who had received an ileal conduit (n = 53) or an orthotopic neobladder (n = 32) after radical cystectomy at 3 Italian institutions in the period January 2000 to September 2004 were retrospectively reviewed. Perioperative and postoperative complications were recorded, as well as survival data at last follow-up. QoL was evaluated in 34 of 37 patients who were alive at the time of analysis by using the European Organisation for Research and Treatment of Cancer (EORTC) instruments quality of life questionnaire C30 (QLQ-C30) and QLQ-muscle-invasive bladder cancer module (QLQ-BLM). RESULTS: Multiple regression analysis showed that stage significantly affected survival whereas the type of urinary diversion did not. Global Health Status (GHS) scores in the neobladder group were higher than in the ileal conduit group but the difference was not statistically significant. The scores of all the QLQ multi-item scales and single-item measures were comparable in the 2 groups. Overall, 56% and 25% daytime and nighttime complete continence rates were observed in patients with an orthotopic neobladder. CONCLUSIONS: The results of our retrospective analysis suggest that an orthotopic neobladder can be suitable for elderly patients with no additional morbidity compared with an ileal conduit. Both types of diversion seem to result in acceptable scores for most aspects of QoL, including urinary symptoms and continence rate. These figures may be helpful in the preoperative counselling of elderly patients with bladder cancer.