Bardet-Biedl syndrome, renal transplant and percutaneous nephrolithotomy: a case report and review of the literature

Bardet-Biedl syndrome is an autosomal recessive disorder with obesity, polydactly, retinitis pigmentosa, hypogenitalism, intellectual impairment and varying degree of renal abnormalities. Fewer than ten cases of paediatric renal transplantation for BBS have been reported in literature so far. This is the only case report of BBS transplant urolithiasis which was dealt with percutaneous nephrolithotomy and has been stone free for seven years. This is a complex case with a rare genetic disorder, renal transplant, renal stone, ileal conduit, long loop and inversely placed kidney. This case exemplifies the need for multidisciplinary management of complex cases and emphasises PCNL as the safe method

The accuracy of ultrasonography in the diagnosis of superficial bladder tumors in patients presenting with hematuria.

Ultrasonography has been proposed as the initial test for detection of bladder carcinomas in patients presenting with hematuria, but the accuracy of transabdominal ultrasonography in the diagnosis of superficial bladder carcinoma has not been assessed. We prospectively evaluated 173 patients presenting to the outpatient department with painless hematuria by transabdominal ultrasound and cystoscopy. The tolerability of cystoscopy was also assessed. Of 148 patients who met the inclusion criteria, 39 with bladder carcinoma were identified by cystoscopy as having bladder carcinoma, while 34 were identified by ultrasonography. For ultrasonography, the sensitivity (87.1%), specificity (98.1%), positive predictive value (94.4%) and negative predictive value (95.4%) were good but not as good as cystoscopy. While the tolerability of cystoscopy is relatively low, it is still superior to ultrasonography in the evaluation of the bladder as a possible source of hematuria

Cystic nephroma: a case report and review of the literature

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