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This book is what one wishes all monographs to be: precise, critical, and informing in every aspect of the disorder under consideration. After a short historical perspective in 44 pages, the clinical aspects of cystinosis, including the eye and the kidney, are presented. A special chapter is devoted to proteinuria. The editor summarizes briefly our knowledge of sulfur metabolism, and presents many concepts of the lysosomal functions. He accumulates enough evidence to prove that cystinosis is a lysosomal storage disease. Further chapters deal with in vitro studies on cystinosis and enzymic reduction of cystine and other disulfides. The extensive therapeutic trials to influence the course of cystinosis have resulted in a disappointing conclusion: "No dietary nor drug treatment succeeded in curing or markedly alleviating the disease." Encouraging results though might be expected from renal homo-transplantation.
SCHREIER K. Cystinosis.. Am J Dis Child. 1974;128(1):124. doi:10.1001/archpedi.1974.02110260126042