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.


METHODS
Case series.


METHODS
Clinical research unit.


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


METHODS
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.
Theodoropoulos
D S
DS
Interinstitute Medical Genetics Program, National Institutes of Health Clinical Center, Bethesda, MD 20892.
Krasnewich
D
D
Kaiser-Kupfer
M I
MI
Gahl
W A
WA
D000328:Adult; D002493:Central Nervous System Diseases / Q000209:etiology; D015331:Cohort Studies; D017281:Cost of Illness; D003543:Cysteamine / Q000627:therapeutic use; D003554:Cystinosis / Q000150:complications / Q000503:physiopathology* / Q000601:surgery* / Q000628:therapy; D004700:Endocrine System Diseases / Q000209:etiology; D005260:Female; D006085:Graft Survival; D006128:Growth; D006801:Humans; D016030:Kidney Transplantation; D008297:Male; D009135:Muscular Diseases / Q000209:etiology; D016019:Survival Analysis; D014792:Visual Acuity
D003543:Cysteamine