[Lipoidosis of the glomerular mesangium with accumulation of cholesterol. A novel hereditary disease].
A new hereditary disease, transmitted autosomal-dominant, which affects the kidneys has been observed in four members of the same family, three males and a woman. No specific clinical manifestations of the disease have been established. A slight proteinuria was first revealed at the age of 17 years. After about twenty years of moderate proteinuria and microscopic hematuria terminal renal failure and severe arterial hypertension occur. Specific for the disease is the storage of lipids, mainly cholesterol and phospholipids in the glomerular mesangium. No lipid storage in other renal structures or other organs could be established. As no changes of cholesterol and triglycerides in the serum have been recorded a general disturbance in their turnover may be excluded. The storage of cholesterol in the mesangial matrix in form of crystals in vitro is specific for the reported hereditary disease and distinguishes it from other diseases in which a glomerular storage of cholesterol is well known.
Doïtchinov
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D
Hôpital des Ouvriers I, Sofia, Bulgarie.
D000328:Adult; D000368:Aged; D002784:Cholesterol / Q000378:metabolism*; D005260:Female; D005920:Glomerular Mesangium / Q000378:metabolism* / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D008064:Lipidoses / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011507:Proteinuria / Q000235:genetics / Q000378:metabolism / Q000473:pathology
D002784:Cholesterol
Lipidose glomérulaire mésangiale avec accumulation de cholestérol. Une nouvelle maladie héréditaire.