نارسايي انتهايي مزمن كليه در سندرم باردت-بيدل (يك مورد نادر)

END - STAGE RENAL DISEASE IN BARDET – BIEDL SYNDROME

The presenting pt is a 13 years old girl who developed ESRD due to Bardet - biedl syndrome . She was complaining of sever weakness, lethargy , nausea, vomiting, dyspnea and decreased level of consciousness. Physical examination revealed all sings of this syndrome , which includes polydactyly , pigmented Retinopathy , truncal obesity , mental retardation , underdevelopment of sexual characteristics . In lab , sever anemia , serum creatinin 8mg/d, hyperkalemia and metobolic acidosis revealed. According to above mentioned evidences, and small size kidneys in ultrasonograghy , and also with attention to this point that she is a product of a familial marriage , diagnosis of Bardet – Biedl syndrome is documented.