Chorionic Biopsy in the Prenatal Diagnosis of Nephropathic Cystinosis
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).
KeywordsChorionic Villus Progressive Renal Failure Competitive Binding Assay Nephropathic Cystinosis Chorionic Villus Sample
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