J. EDWIN SEEGMILLER, M.D.; THEODORE FRIEDMANN, M.D.; HAROLD E. HARRISON, M.D.; VERNON WONG, M.D.; JERRY A. SCHNEIDER, M.D.
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Cystinosis, a recessively inherited disease with cystine crystals in the cornea, bone marrow, and reticuloendothelial cells, occurs in two forms. In adults it is a benign disorder, while in children it is invariably fatal. Features of the childhood type are related to dysfunction of the renal tubules resulting in the Fanconi syndrome with polyuria, generalized aminoaciduria, glycosuria, phosphaturia, and rickets. Glomerular damage leads to uremic death, usually within the first decade of life.
A characteristic lesion in the peripheral retina, a patchy depigmentation, is found consistently in the childhood form but not in the adult form. The lesion was detectable in a child only 5 weeks old.
The primary biochemical defect is unclear, but the abnormality most directly related to the crystal deposition is a high cystine concentration within cells rather than in plasma. The cystine concentrations in leukocytes and in fibroblasts grown in culture are 80 and 100 times normal, respectively. Heterozygotes show modest increases in cystine concentration in both cell types. Cystine may be compartmentalized within cells of these children since it separates with a granular fraction on high speed centrifugation and is incapable of supplying nutritional requirements for cystine when affected fibroblasts are cultured in vitro in a cystine-free medium.
Experimental treatment with D-penicillamine or with a synthetic diet low in cystine and methionine decreased the concentration of cystine in plasma to one half and one third of normal values, respectively, but failed to alter either the children's clinical course or their intracellular cystine concentration.
SEEGMILLER JE, FRIEDMANN T, HARRISON HE, et al. Cystinosis: Combined Clinical Staff Conference at the National Institutes of Health. Ann Intern Med. 1968;68:883–905. doi: https://doi.org/10.7326/0003-4819-68-4-883
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Published: Ann Intern Med. 1968;68(4):883-905.
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