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Chorionic Biopsy in the Prenatal Diagnosis of Nephropathic Cystinosis

  • W. A. Gahl
  • A. Dorfmann
  • M. I. Evans
  • E. M. Karson
  • E. J. Landsberger
  • S. E. Fabro
  • J. D. Schulman

Abstract

Nephropathic cystinosis is a recessively inherited inborn error of metabolism characterized by greatly elevated levels of intracellular, intralysosomal cystine accumulation in many cells of affected individuals. Death from progressive renal failure usually occurs before 12 years of age, unless renal transplantation is performed (Schneider and Schulman 1983). Experimental therapy with orally administered cysteamine appears to be of some value in retardating or preventing the progress of renal damage in some patients, but treatment of this disorder is still quite unsatisfactory (Schneider et al. in preparation).

Keywords

Chorionic Villus Progressive Renal Failure Competitive Binding Assay Nephropathic Cystinosis Chorionic Villus Sample 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Evans MI, Gahl WA, Landsberger EJ, Karson EM, Dorfmann AD, Larsen JW Jr, Schulman JD (1984) Normal chorionic villus 1/2 cystine levels are similar to fibroblast values: possible basis for the first trimester diagnosis of cystinosis. Am J Hum Genet 36:187 S/555Google Scholar
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    Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD (1982b) Lysosomal cysteine transport is defective in cystinosis. Science 217: 1263PubMedCrossRefGoogle Scholar
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    Schneider J A, Rosenbloom F, Bradley K, Seegmiller JE (1967) Increased free cystine content of fibroblasts cultured from patients with cystinosis. Biochem Biophys Res Commun 29: 527PubMedCrossRefGoogle Scholar
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    Schulman JD (1973) Cystinosis. DHEW publication NIH 72–249Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1985

Authors and Affiliations

  • W. A. Gahl
    • 1
    • 2
    • 3
    • 4
  • A. Dorfmann
    • 1
    • 2
    • 3
    • 4
  • M. I. Evans
    • 1
    • 2
    • 3
    • 4
  • E. M. Karson
    • 1
    • 2
    • 3
    • 4
  • E. J. Landsberger
    • 1
    • 2
    • 3
    • 4
  • S. E. Fabro
    • 1
    • 2
    • 3
    • 4
  • J. D. Schulman
    • 1
    • 2
    • 3
    • 4
  1. 1.National Institutes of HealthBethesdaUSA
  2. 2.Wayne State University DetroitUSA
  3. 3.George Washington and Georgetown UniversityUSA
  4. 4.The Genetics and IVF Institute and Fairfax HospitalFairfaxUSA

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