FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 347:111-121 July 11, 2002 Number 2 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text PDF PDA Full Text Purchase this article Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

Cystinosis is an autosomal recessive disorder with an estimated incidence of 1 case per 100,000 to 200,000 live births. The gene for cystinosis, CTNS, was mapped to chromosome 17p13 in 1995¹ and was isolated in 1998.² In nephropathic cystinosis, free cystine accumulates continuously in lysosomes, eventually resulting in intracellular crystal formation throughout the body. In a parallel fashion, the acquisition of clinical and basic information about cystinosis over the past four decades has crystallized our understanding of the cause and treatment of this previously enigmatic disease. Since therapy has proved extremely effective, early diagnosis and treatment are critical aspects.

Historical Aspects

Although . . . [Full Text of this Article]

Clinical Characteristics

Renal Findings

Systemic Involvement before Renal Transplantation

Systemic Involvement after Renal Transplantation

Pathological Features

The Basic Defect

Genetic Features

Diagnosis

Treatment

Supportive Therapy

Specific Therapy with Cysteamine

Clinical Variants

Future Directions

Source Information

From the Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Md. (W.A.G.); the Hayward Genetics Center, Tulane Health Sciences Center, New Orleans (J.G.T.); and the Department of Pediatrics, University of California–San Diego, La Jolla (J.A.S.).

Address reprint requests to Dr. Gahl at 10 Center Dr., MSC 1830, Bldg. 10, Rm. 9S-241, National Institute of Child Health and Human Development, Bethesda, MD 20892-1830, or at bgahl@helix.nih.gov.

This article has been cited by other articles:

• Monnens, L., Levtchenko, E. (2008). Evaluation of the proximal tubular function in hereditary renal Fanconi syndrome. Nephrol Dial Transplant 23: 2719-2722 [Full Text]  
• Taranta, A., Petrini, S., Palma, A., Mannucci, L., Wilmer, M. J., De Luca, V., Diomedi-Camassei, F., Corallini, S., Bellomo, F., van den Heuvel, L. P., Levtchenko, E. N., Emma, F. (2008). Identification and subcellular localization of a new cystinosin isoform. Am. J. Physiol. Renal Physiol. 294: F1101-F1108 [Abstract] [Full Text]  
• Connor, K, Lennon, R, McGraw, M E, Coward, R J M (2008). A fair reason for failing to thrive. EDUCATION AND PRACTICE 93: 50-57 [Full Text]  
• Currie, E., King, B., Lawrenson, A. L., Schroeder, L. K., Kershner, A. M., Hermann, G. J. (2007). Role of the Caenorhabditis elegans Multidrug Resistance Gene, mrp-4, in Gut Granule Differentiation. Genetics 177: 1569-1582 [Abstract] [Full Text]  
• Gahl, W. A., Balog, J. Z., Kleta, R. (2007). Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy. ANN INTERN MED 147: 242-250 [Abstract] [Full Text]  
• Forbes, M. S., Thornhill, B. A., Park, M. H., Chevalier, R. L. (2007). Lack of Endothelial Nitric-Oxide Synthase Leads to Progressive Focal Renal Injury. Am. J. Pathol. 170: 87-99 [Abstract] [Full Text]  
• Ueda, M., O'Brien, K., Rosing, D. R., Ling, A., Kleta, R., McAreavey, D., Bernardini, I., Gahl, W. A. (2006). Coronary Artery and Other Vascular Calcifications in Patients with Cystinosis after Kidney Transplantation. CJASN 1: 555-562 [Abstract] [Full Text]  
• Olcay, L, Erdemli, E, Kesimer, M, Buyukasik, Y, Okur, H, Kalkanoglu, H S, Coskun, T, Altay, C (2005). High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation. J. Clin. Pathol. 58: 939-945 [Abstract] [Full Text]  
• van de Poll, M. C., Soeters, P. B, Deutz, N. E., Fearon, K. C., Dejong, C. H. (2004). Renal metabolism of amino acids: its role in interorgan amino acid exchange. Am. J. Clin. Nutr. 79: 185-197 [Abstract] [Full Text]