Classic nephropathic cystinosis as an adult disease.

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.