Korean Journal of Nephrology 1996;15(4):640-645.
만성 신부전으로 진행된 Laurence Moon -Barder Biedl Syndrome 1예
이재련 , 송영두 , 임상우 , 김기윤 , 도준영 , 윤경우
Abstract
Laurence Moon-Bardet Biedl syndrome is a rare and autosomal recessive disorder characterized by obesity, mental retardation, polydactyly, hypogona- dism, and pigmentary retinopathy. Additional features include congenital heart disease and chronic renal failure which is secondary to renal structural and functional abnormality. Recently we encountered a 43 year old female patient with Laurence Moon-Bardet Biedl syndrome who was known to suffer from masangioproliferative glomerulonephritis, developed chronic renal failure. The typical features of the syndrome, presented by this patient were obesity, polydactyly, hypogonado- tropic hypogonadism, pigmentary retinopathy, inter- mediate mental retardation, and renal abnormalities. The relevant literature was reviewed.
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