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.

Figure 1.

X ray of the hands.

Figure 2.

Immediate post operative X ray showing no stone.

Figure 3.

X ray two years later showing a 2 cm stone in the renal pelvis overlying pelvic bone.

Figure 4.

CT showing an inversely placed kidney with stone in the renal pelvis.

Figure 5.

Loopogram showing a long tortuous loop overlying the kidney.