Background: Bardet-Biedl syndrome (BBS) is an autosomal recessive
disorder characterized by obesity, polydactyly of the hands and feet,
retinitis pigmentosa, hypogenitalism and various degrees of
intellectual impairment and renal anomalies. Other clinical features
include: speech disorder, brachydactyly, developmental delay,
polyuria/polydipsia, ataxia, poor coordination/clumsiness, diabetes
mellitus, left ventricular hypertrophy, hepatic fibrosis. Spasticity
and mental retardation fulfill the criteria for
Laurence-Moon-Bardet-Biedl syndrome (LMBBS). Methods: From March 1998
to April 2003, five patients (4 females) with LMBBS were transplanted
with kidneys taken from living unrelated donors (LURD). All 5 patients
had Retinitis pigmentosa and obesity with a body mass index (BMI) up to
39.33. Findings: The cause of end stage renal failure (ESRF) was reflux
nephropathy in one, neuropathic bladder in one and renal
hypoplasia/dysplasia in three patients. Mean age at transplantation was
11 years (Range 6 to 17 years). Immunosuppressives were prednisolone,
cyclosporine (Neoral) and mycophenolate mofetile (Cellcept). All of
them suffered at least one episode of acute rejection shortly after
transplantation but reversed with Methyl prednisolone pulses and in the
last follow-up the mean creatinine was 1.2 (range 0.6 to 2mg/dl). Mean
glomerular filtration rate (GFR) before transplantation was
10ml/min/1.73m2 and in the last follow-up 79 (range 38 to 137) based on
Schwartz formula.Conclusions: Renal transplantation is safe and
successful and renal replacement (RR) therapy of choice in patients
with LMBBS and ESRF but special attention should be paid to BMI and
steroid free immunosuppression should be considered if other suitable
drugs such as Rapamycin are affordable
