title: Bardet-Biedl syndrome, renal transplant and percutaneous nephrolithotomy: a case report and review of the literature.
abstract: 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.
authors.affiliation: Department of Urology, University Hospital of South Manchester Foundation NHS trust, Wythenshawe Hospital Southmoor Road, Manchester, M13 0DP UK. seshi@gmx.com
authors.forename: Seshikanth
authors.initials: S
authors.lastname: Middela
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Polizois
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Bradley
authors.forename: Poduri N
authors.initials: PN
authors.lastname: Rao