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The nail-patella syndrome-pathogenesis of the kidney lesion. 1974

R L Vernier, and J R Hoyer, and A F Michael

The nail-patella syndrome is an inheritable disorder of connective tissue in which multiple osseous abnormalities are frequently associated with renal dysfunction and proteinuria. This paper describes a unique abnormality of glomerular basement membranes (GBM) in eight patients. The abnormality consists of fibrils and bundles of cross-striated collagen within the GBM of each patient, including children with minimal proteinuria. This ultrastructural lesion may provide increased understanding of the pathogenesis of the basic defect underlying both the osseous and renal lesion.

UI MeSH Term Description Entries
D007668 Kidney Body organ that filters blood for the secretion of URINE and that regulates ion concentrations. Kidneys
D007674 Kidney Diseases Pathological processes of the KIDNEY or its component tissues. Disease, Kidney,Diseases, Kidney,Kidney Disease
D007678 Kidney Glomerulus A cluster of convoluted capillaries beginning at each nephric tubule in the kidney and held together by connective tissue. Glomerulus, Kidney
D009261 Nail-Patella Syndrome A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait. Osteo-Onychodysplasia, Hereditary,Osterreicher Syndrome,Pelvic Horn Syndrome,Turner-Kieser Syndrome,Fong Disease,Hereditary Onycho-Osteodysplasia,Hereditary Osteo-Onychodysplasias,Onychoosteodysplasia,Disease, Fong,Hereditary Osteo-Onychodysplasia,Nail Patella Syndrome,Osteo Onychodysplasia, Hereditary,Osteo-Onychodysplasias, Hereditary,Syndrome, Nail-Patella,Syndrome, Osterreicher,Syndrome, Pelvic Horn,Syndrome, Turner-Kieser,Turner Kieser Syndrome
D011507 Proteinuria The presence of proteins in the urine, an indicator of KIDNEY DISEASES. Proteinurias
D003094 Collagen A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of SKIN; CONNECTIVE TISSUE; and the organic substance of bones (BONE AND BONES) and teeth (TOOTH). Avicon,Avitene,Collagen Felt,Collagen Fleece,Collagenfleece,Collastat,Dermodress,Microfibril Collagen Hemostat,Pangen,Zyderm,alpha-Collagen,Collagen Hemostat, Microfibril,alpha Collagen
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001485 Basement Membrane A darkly stained mat-like EXTRACELLULAR MATRIX (ECM) that separates cell layers, such as EPITHELIUM from ENDOTHELIUM or a layer of CONNECTIVE TISSUE. The ECM layer that supports an overlying EPITHELIUM or ENDOTHELIUM is called basal lamina. Basement membrane (BM) can be formed by the fusion of either two adjacent basal laminae or a basal lamina with an adjacent reticular lamina of connective tissue. BM, composed mainly of TYPE IV COLLAGEN; glycoprotein LAMININ; and PROTEOGLYCAN, provides barriers as well as channels between interacting cell layers. Basal Lamina,Basement Lamina,Lamina Densa,Lamina Lucida,Lamina Reticularis,Basement Membranes,Densas, Lamina,Lamina, Basal,Lamina, Basement,Lucida, Lamina,Membrane, Basement,Membranes, Basement,Reticularis, Lamina

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