Abstract
We examined 15 patients with nephropathic cystinosis age 13-27 years. One 15-year-old girl had received peritoneal dialysis for 3 1/2 years; the others each received an initial renal allograft between 7 and 13 years of age. All 15 patients had photophobia and episodes of corneal erosion. These were at times incapacitating in 4 patients; one 13-year-old boy received substantial relief from a penetrating keratoplasty, performed after other treatment modalities failed to offer relief. Five patients had markedly decreased uncorrectable visual acuity, posterior synechiae and crystal deposition on the lens surface. Four had color vision deficits; 3 had elevated dark adaptation. Electroretinography supported these findings. All 15 patients were growth retarded, with mean height age 8.9±3.8 (SD) years less than chronological age. Bone age was also far behind chronological age. Sexual development was delayed, but usually complete by 17 years of age. Hepatic function appeared normal. Nine patients required thyroid replacement. One patient had neurological impairment with bradykinesia, dementia, dysarthria and dysphagia. Six patients, all asymptomatic, had significant cerebral atrophy on CT scan, and two had deep white matter calcifications. Recently, oral cysteamine therapy has been shown to help prevent renal deterioration and improve growth in young children with cystinosis. The extensive nonrenal involvement in longstanding cystinosis suggests that this cystine-depleting agent should be considered as therapy for post-transplant patients as well.
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Gahl, H., Kalaer-Kupfer, M. & Fink, J. NONRENAL COMPLICATIONS OF NEPHROPATHIC CYSTINOSIS AFTER RENAL FAILURE. Pediatr Res 21 (Suppl 4), 289 (1987). https://doi.org/10.1203/00006450-198704010-00734
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DOI: https://doi.org/10.1203/00006450-198704010-00734