Renal transplantation in patients with Bardet-Biedl syndrome.
關鍵詞
抽象
BACKGROUND
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, polydactyly of hands and feet, retinitis pigmentosa, hypogenitalism, 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, and renal hypoplasia/dysplasia. If spasticity and mental retardation present, it fulfills the criteria for Laurence-Moon-Bardet-Biedl syndrome.
METHODS
Between July 1985 and January 2005, 2,282 kidney transplantations were performed at Labbafinejad Medical Center, of whom 262 were children under 15 years of age (61% males). Among children, five (four females) had Bardet-Biedl syndrome who were transplanted preemptively. Kidneys were taken from living unrelated donors.
RESULTS
All five patients had retinitis pigmentosa and obesity with body mass index up to 39.33 kg/m(2). The cause of end-stage renal failure was reflux nephropathy in one, neurogenic bladder in one, and renal hypoplasia/dysplasia in three patients. The mean age at transplantation was 11 years (range: 6-17 years). Immunosuppressives administered were prednisolone, cyclosporine, and mycophenolate mofetil. All of them suffered at least one episode of acute rejection shortly after transplantation but reversed with methylprednisolone pulses; in the last follow-up, the mean creatinine was 1.2 (range: 0.6 - 2.3 mg/dL). The mean glomerular filtration rate before transplantation was 10 mL/min/1.73 m(2); in the last follow-up it was 79 (range: 38-137).
CONCLUSIONS
Renal transplantation is a safe and successful procedure and renal replacement therapy of choice in patients with Bardet-Biedl syndrome and end-stage renal failure, but special attention should be paid to body mass index and steroid-free immunosuppression if other suitable drugs, such as sirolimus and basiliximab are affordable.
