Alport disease

Allylic rearrangement 527,712 with condensation 527 Allysine 429 Alpha-carbon plot 64 Alpha effect on reaction rates 590 Alpha helix See a Helix Alport disease 438 Alternan 175... 

The situation in conditions where the gene defect is known differs in many aspects from those where only the localization is known. The identification of the responsible mutation in principle does allow a definite diagnosis of the condition without a further investigation or clinical examination. The detection of the mutation in Alport disease for example can replace further clinical or family evaluation. The same applies to the metabolic defects underlying some inherited causes of nephrolithiasis. But even in diseases where a gene is identified, specific problems can limit the practical application ... 

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.)... 

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... 

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). 

Brainwood D, KashtanC,GublerMC,Turner AN.Targetsofalloantibodiesin Alport anti-glomerular basement membrane disease after renal transplantation. Kidney Int. 1998 53 762-726. 

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... 

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. 

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... 

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