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Laurence-moon-Bardet-Biedl syndrome: A 19 years girl with total blindness and end stage renal disease
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نویسنده
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rahman m. ,islam n. ,biswas s. ,zaved h.a. ,dewan g.
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منبع
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journal of medicine (bangladesh) - 2014 - دوره : 15 - شماره : 1 - صفحه:94 -97
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چکیده
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Laurence-moon-bardet-biedl syndrome is a rare autosomal recessive disorder characterized bystructural and functional abnormalities of different organ and tissues. renal involvement is the single most feature of prognostic importance. we report a case with end stage kidney disease. the diagnosis was missed until patient presented with renal dysfunction. early diagnosis and screening for renal involvement is crucial for prolong survival.
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کلیدواژه
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Consanguinity; End stage renal disease; Polydactyly; Retinopathy; Total blindness
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آدرس
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dept. of nephrology united hospital, Bangladesh, dept. of nephrology united hospital, Bangladesh, dept. of medicine, Bangladesh, dept. of nephrology united hospital, Bangladesh, bangabandhu sheikh mujib medical university, Bangladesh
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Authors
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