bardet-biedl syndrome with end stage renal disease
نویسندگان
چکیده
bardet-biedl syndrome (bbs) is one of the rare autosomal recessive disorders that affect multiple organs of the body. the signs and symptoms of this condition vary among affected individuals, even among members of the same family. we present a case of bbs with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental retardation, along with a brief review of the literature. the patient had end stage renal disease and managed with dialysis. this case also exemplifies the need for multidisciplinary approach in the management of such cases.
منابع مشابه
Bardet-Biedl Syndrome with End Stage Renal Disease
Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...
متن کاملBardet-Biedl Syndrome with End Stage Renal Disease
Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...
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Laurence-Moon-Bardet -Biedl syndrome is a rare congenital disorder, inherited in the autosomal recessive mode. The syndrome is characterized by five cardinal features, namely obesity (83% of cases), mental retardation (80%), polydactyly (75%), retinitis pigmentosa (68%) and hypogeni tali sm (60%).1 Renal invo lvement wi th progressive deterioration in renal function was recognized as a major ca...
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BACKGROUND Bardet-Biedl syndrome (BBS) is a multisystem genetic disorder characterized with central obesity, pigmentary retinopathy, polydactyly, mental retardation, and hypogenitalism. Renal abnormalities have been recognized as a cardinal feature of the disease with serious prognostic implication. The aim of this study was to analyze the renal status in children with BBS and to implement appr...
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Objective: To describe a case of Bardet-Biedl syndrome involving renal failure and retinal dystrophy. Case Presentation and Intervention: A 50-year-old female patient presented to the emergency service with uremic symptoms and metabolic acidosis. Polydactyly, retinitis pigmentosa, obesity, strabismus, nistagmus and renal failure were found. Because she had end-stage renal failure, hemodialysis ...
متن کاملRenal transplantation in patients with Bardet-Biedl syndrome.
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 ve...
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عنوان ژورنال:
iranian journal of medical sciencesجلد ۴۱، شماره ۶، صفحات ۵۳۹-۰
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