Alport syndrome/disease

Scriver CR et al (editors) The Metabolic and Molecular Bases of Inherited Disease, 8th ed. McGraw-Hill, 2001 (This comprehensive four-volume text contains chapters on disorders of collagen biosynthesis and structure, Marfan syndrome, the mucopolysaccharidoses, achondroplasia, Alport syndrome, and craniosynostosis syndromes.)... 

H5. Hudson, B. G., Reeder, S. T., and Tryggvason, K., Type IV collagen Structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. J. Biol. Chem. 268, 26033-26036 (1993). 

Genetic Basis of Important Nephropathies 76 Alport Syndrome (AS) 76 Bartter Syndrome 76 Nephrogenic Diabetes Insipidus 78 Nocturnal Enuresis 78 Nephrolithiasis 78 Juven ile Nephronophthisis/Medullary Cystic Kidney Disease 78 Nephrotic Syndromes 78 Cystinosis 79... 

Glomerular diseases (e.g., anti-glomerular basement membrane disease, focal segmental glomerularsclerosis, IgA nephropathy, hemolytic uremic syndrome, systemic lupus erythematosus, Alport s syndrome, amyloidosis, membranous nephropathy, and Goodpasture s syndrome)... 

Alport s syndrome A hereditary disease that affects kidney function and can also cause hearing and vision disorders. 

Pelizaeus-Merzbacher disease p Alport-like hereditary nephritis [pabry disease q Lowe syndrome Immunodeficiency, X-linked r with hyper IgM Lymphoproliterative syndrome s Hemophilia B t Albinism-deafness syndrome u Fragile X syndrome Hunter syndrome Hemophilia A... 

Pelizaeus-Merzbacher disease p Alport-like hereditary nephritis Fabry disease q Lowe syndrome... 

Experimental smdies demonstrated that enteral administration of GBM ameUorates the development of Goodpasture s disease (108) suggesting that oral recombinant oc3 (IV) NCI peptides might restore tolo-ance or prevent disease onset in patients with Alport s syndrome who undCTgo renal transplantation (109). 

Turner AN, Rees AJ. Goodpasture s disease and Alport s Syndrome. Annu Rev Med 1996 47 377-386. 

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