Culture of human glomeruli from patients with metabolic or genetic diseases.
Glomeruli from two patients with metabolic disease were cultured and examined ultrastructurally. One patient with neuronal ceroid lipofuscinosis showed intracellular membrane alterations that we have never seen in normal glomerular cells. In contrast, ultrastructural features of glomerular cells from a patient with nonketotic hyperglycinemia did not differ significantly from normal. These initial findings led us to successfully culture glomeruli from a patient with Alport's syndrome (hereditary nephritis). The results of our studies suggest that several metabolic or genetic diseases that affect the kidney could be studied through culture of tissue.
D000328:Adult; D002478:Cells, Cultured; D002675:Child, Preschool; D005998:Glycine / Q000097:blood / Q000378:metabolism; D006801:Humans; D007674:Kidney Diseases / Q000473:pathology*; D007678:Kidney Glomerulus / Q000648:ultrastructure*; D008062:Lipofuscin / Q000378:metabolism; D008297:Male; D008659:Metabolic Diseases / Q000473:pathology*; D009394:Nephritis, Hereditary / Q000473:pathology*
D008062:Lipofuscin; D005998:Glycine