Nephrolithiasis with Bardet-Biedl syndrome in a three-year-old girl: A case report
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چکیده
Bardet-Biedl syndrome is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. Renal disease is clinically heterogeneous, but is recognized as a cardinal feature and is a major cause of mortality in BBS. We here presented a three-year-old girl with renal stone and Bardet-Biedl syndrome.
منابع مشابه
A Case of Bardet-Biedl Syndrome
Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...
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The cardinal manifestations of Bardet–Biedl Syndrome are described to include retinal dystrophy, obesity, polydactyly or dysmorphic extremities, mental retardation, and hypogonadism which especially affects boys. Renal involvement has been described as a sixth cardinal feature. Only in the last 20 years has a significant renal component been noted. The spectrum of renal involvement can range fr...
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متن کاملBardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
BACKGROUND Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age and continuous ambulatory peritoneal dialysis, however, are not commonly mentioned in the literature. CASE PRESENTATION We present the case of ...
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تاریخ انتشار 2014