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November 10, 1993

Classic Nephropathic Cystinosis as an Adult Disease

Author Affiliations

From the Interinstitute Medical Genetics Program, National Institutes of Health Clinical Center (Dr Theodoropoulos), the Section on Human Biochemical Genetics, Human Genetics Branch, National Institute of Child Health and Human Development (Drs Krasnewich and Gahl), and the National Eye Institute (Dr Kaiser-Kupfer), National Institutes of Health, Bethesda, Md.

JAMA. 1993;270(18):2200-2204. doi:10.1001/jama.1993.03510180070036

Objective.  —To delineate the clinical characteristics of infantile nephropathic cystinosis in adult patients who have undergone renal transplantation.

Design.  —Case series.

Setting.  —Clinical research unit.

Patients.  —All 36 adult patients with nephropathic cystinosis referred to the National Institutes of Health.

Outcome Measures.  —Longevity, growth, renal allograft survival, visual acuity, endocrine insufficiency, myopathy and swallowing dysfunction, cerebral calcifications, and occupational status.

Results.  —Of the 36 patients, seven were dead, five with functioning allografts. The 1-year and 5-year graft survival rates for 30 cadaveric allografts were 90% and 75%, respectively. The patients' mean height and weight were severely retarded. Five patients were legally blind, and three others had severely impaired vision in one eye. Thirty-one (86%) of 36 patients required thyroid hormone replacement therapy. One third had a distal myopathy, and 21 had moderate to severe swallowing abnormalities. Eight patients had cerebral calcifications on computed tomographic scan. Despite these complications, the sighted patients engaged in a normal variety of occupations. Only 11 patients were receiving adequate cystine-depleting therapy with cysteamine (mercaptamine) or phosphocysteamine.

Conclusions.  —Adult patients with nephropathic cystinosis suffer serious complications of the disease.(JAMA. 1993;270:2200-2204)