CLASSIC NEPHROPATHIC CYSTINOSIS AS AN ADULT DISEASE

Objective.-To delineate the clinical characteristics of infantile neph ropathic cystinosis in adult patients who have undergone renal transpl antation. Design.-Case series. Setting.-Clinical research unit. Patien ts.-All 36 adult patients with nephropathic cystinosis referred to the National Institutes of Health. Outcome Measures.-Longevity, growth, r enal allograft survival, visual acuity, endocrine insufficiency, myopa thy and swallowing dysfunction, cerebral calcifications, and occupatio nal status. Results.-Of the 36 patients, seven were dead, five with fu nctioning allografts. The 1-year and 5-year graft survival rates for 3 0 cadaveric allografts were 90% and 75%, respectively. The patients' m ean height and weight were severely retarded. Five patients were legal ly blind, and three others had severely impaired vision in one eye. Th irty-one (86%) of 36 patients required thyroid hormone replacement the rapy. One third had a distal myopathy, and 21 had moderate to severe s wallowing abnormalities. Eight patients had cerebral calcifications on computed tomographic scan. Despite these complications, the sighted p atients engaged in a normal variety of occupations. Only 11 patients w ere receiving adequate cystine-depleting therapy with cysteamine (merc aptamine) or phosphocysteamine. Conclusions.-Adult patients with nephr opathic cystinosis suffer serious complications of the disease.