Kute Vivek B, Vanikar Aruna V, Gumber Manoj R, Patel Himanshu V, Shah Pankaj R, Patil Sachin B, Trivedi Hargovind L
Department of Nephrology and Clinical Transplantation, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences IKDRC-ITS, Civil Hospital Campus, Asarwa, Ahmedabad, 380016 Gujarat India.
Department of Pathology, Laboratory Medicine, Transfusion Services and Immunohematology, IKDRC-ITS, Ahmedabad, India.
Indian J Clin Biochem. 2013 Apr;28(2):201-5. doi: 10.1007/s12291-012-0275-y. Epub 2012 Oct 30.
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, postaxial polydactyly, central obesity, and renal involvement. Renal failure is the commonest cause of death. We report a case of BBS with chronic kidney disease (CKD) at younger age (17 year) from India. This diagnosis should be considered in patients with renal disease and the characteristic phenotype of retinitis pigmentosa, postaxial polydactyly and central obesity. These patients should undergo regular monitoring of renal function test to early diagnosis and treatment of CKD to prevent morbidity and mortality. Renal transplantation is a viable option of renal replacement therapy in these patients. These findings are valuable for comparing phenotype of BBS patients with CKD from various national and international centers.
巴德-比德尔综合征（BBS）是一种罕见的常染色体隐性疾病，其特征为色素性视网膜炎、轴后多指畸形、中心性肥胖和肾脏受累。肾衰竭是最常见的死亡原因。我们报告一例来自印度的17岁年轻患者患有巴德-比德尔综合征合并慢性肾脏病（CKD）。对于患有肾脏疾病且具有色素性视网膜炎、轴后多指畸形和中心性肥胖特征性表型的患者，应考虑这一诊断。这些患者应定期进行肾功能检查监测，以便早期诊断和治疗慢性肾脏病，预防发病和死亡。肾移植是这些患者可行的肾脏替代治疗选择。这些发现对于比较来自各个国家和国际中心的患有慢性肾脏病的巴德-比德尔综合征患者的表型具有重要价值。
