Complications of nephropathic cystinosis after renal failure.
Fifteen patients with nephropathic cystinosis, ranging in age from 13 to 27 years, were studied. Two were in renal failure; 13 had functioning renal allografts; 5 had severe, uncorrectable loss of visual acuity as well as posterior synechiae and crystal deposits on the lens surface. All 15 patients had photophobia and corneal erosions to variable degrees. All patients were growth retarded with delayed bone ages. Puberty occurred late, but was generally complete by 17 years of age. Hepatic function appeared normal. Only 1 patient had neurological deterioration, but 11 patients had some degree of cerebral atrophy radiologically. The continued accumulation of cystine within cystinotic tissues results in serious extrarenal complications many years after renal transplantation in cystinosis.
Gahl
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WA
Human Genetics Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892.
Kaiser-Kupfer
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MI
D000328:Adult; D003554:Cystinosis / Q000150:complications* / Q000503:physiopathology; D005128:Eye Diseases / Q000150:complications; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications*; D007677:Kidney Function Tests; D008297:Male