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Review
. 2013 Jan;28(1):51-9.
doi: 10.1007/s00467-012-2242-5. Epub 2012 Aug 18.

Cystinosis: the evolution of a treatable disease

Galina Nesterova  1 , William A Gahl
Affiliations
Review

Cystinosis: the evolution of a treatable disease

Galina Nesterova et al. Pediatr Nephrol. 2013 Jan.

Abstract

Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease was transformed into a treatable disorder. Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years. Consequently, early diagnosis and appropriate therapy are critically important. In this article, we offer a review of the manifestations of cystinosis, including the proximal tubular dysfunction of renal Fanconi syndrome, and discuss the prevention and treatment of the disorder's systemic complications. We focus on the nephropathic forms of cystinosis, aiming to assist nephrologists and other physicians to develop early recognition and appropriate management of cystinosis patients.

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Figures

Fig. 1
Fig. 1
Early findings in Cystinosis a) an infant with Fanconi syndrome (FS), b) Rickets, c) corneal crystals on Slit Lamp exam, d) Corneal crystals, e) glomerular cystine crystals, f) nephrocalcinosis, g) Electron Microscopy of the tubular epithelial cell, only the nucleus and a thin rim of cytoplasm remain. The mitochondria, lysosomes, crystalline spaces, and brush border have disappeared h) ‘swan neck” deformities (figures used with permission from [38])
Fig. 2
Fig. 2
Late complications of cystinosis a) vacuoles in the muscle cells, b) cystine crystals in the hand muscles, c) hepatic nodular hyperplasia, d) bone marrow cystine crystals. e) adult patient with trunk muscle wasting, f) hand muscle atrophy g) barium swallowing study : Pooling in valleculae and pyriform sinuses h) cerebral calcifications
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