Sharifian Mostafa, Dadkhah-Chimeh Masood, Einollahi Behzad, Nafar Mohsen, Simforoush Nasser, Basiri Abbass, Otukesh Hassan
Department of Nephrology, Labbafinejad Hospital, Shaheed Beheshti University of Medical Sciences, Tehran, Iran.
Arch Iran Med. 2007 Jul;10(3):339-42.
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.
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.
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).
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.
巴德-比德尔综合征是一种常染色体隐性疾病，其特征为肥胖、手足多指（趾）畸形、色素性视网膜炎、生殖器发育不全、不同程度的智力障碍以及肾脏异常。其他临床特征包括言语障碍、短指（趾）畸形、发育迟缓、多尿/烦渴、共济失调、协调性差/笨拙、糖尿病、左心室肥厚、肝纤维化以及肾发育不全/发育异常。如果出现痉挛和智力迟钝，则符合劳伦斯-穆恩-巴德-比德尔综合征的标准。
1985年7月至2005年1月期间，拉巴菲内贾德医疗中心进行了2282例肾移植手术，其中262例为15岁以下儿童（61%为男性）。在儿童患者中，有5例（4例女性）患有巴德-比德尔综合征，接受了先发制人的肾移植手术。肾脏取自非亲属活体供者。
所有5例患者均患有色素性视网膜炎和肥胖症，体重指数高达39.33kg/m²。终末期肾衰竭的病因，1例为反流性肾病，1例为神经源性膀胱，3例为肾发育不全/发育异常。移植时的平均年龄为11岁（范围：6 - 17岁）。使用的免疫抑制剂为泼尼松龙、环孢素和霉酚酸酯。所有患者在移植后不久均至少发生过一次急性排斥反应，但经甲泼尼龙冲击治疗后逆转；在最后一次随访时，平均肌酐水平为1.2（范围：0.6 - 2.3mg/dL）。移植前的平均肾小球滤过率为10mL/min/1.73m²；在最后一次随访时为79（范围：38 - 137）。
肾移植是巴德-比德尔综合征合并终末期肾衰竭患者安全且成功的手术及首选的肾脏替代治疗方法，但如果西罗莫司和巴利昔单抗等其他合适药物价格可承受，应特别关注体重指数和无类固醇免疫抑制。
