Treatment of cystinosis by a cystine- and methionine-poor diet plus anabolic steroid: treatment of two children and survey of previous treatment results
Ebbesen, F.; Holck, F.; Mygind, K.I.
Danish Medical Bulletin 23(5): 210-216
1976
ISSN/ISBN: 0907-8916 PMID: 975941 Document Number: 106102
A boy 6 and a girl 14 months old with nephropathic cystinosis were given a diet low in cystine and methionine with anabolic steroid for 24 months. Clinical condition improved, the children became more lively and active, appetite and weight became normal, vomiting ceased and temperature became stable. Thirst and diuresis decreased temporarily with improvement of the concentrating capacity of the kidneys and fall in blood urea associated with intake of less protein. There was no clear evidence that treatment inhibited the progress of the disorder. In the boy during treatment crystals were seen in bone marrow, glomerular filtration decreased considerably and growth rate did not accelerate. However, rickets did not progress and renal concentrating capacity improved, but only temporarily. Tubular reabsorption of the low-molecular proteins did not improve. In the girl crystals increased in cornea, growth rate did not accelerate, glomerular filtration decreased and vitamin D requirement increased, but renal concentrating capacity improved temporarily. Reduced reabsorption of the low-molecular proteins continued. There were no side effects in either patient.