Atlas of Medical Renal Pathology by Stephen M. Bonsib

Author:Stephen M. Bonsib
Language: eng
Format: epub
Publisher: Springer New York, New York, NY

3.8.6 Cystinosis

Cystinosis is an autosomal recessive disorder caused by mutation of the CTNS gene that encodes for cystinosin. The mutations result in lysosomal accumulation of cystine, leading to multiorgan damage. Three forms of cystinosis affect the kidney. The infantile nephropathic form is most severe. Patients present with Fanconi syndrome, which if untreated is followed by renal failure and death by age 10 years. The juvenile form is slowly progressive and causes glomerular disease (see Figs. 6.170, 6.171, and 6.172). The adult form shows only ocular disease.

Fig. 3.154Infantile nephropathic cystinosis. This image of an autopsy kidney from a patient with the infantile form of cystinosis shows a large cluster of refractile cystine crystal within the interstitium. The crystals are very tiny and water soluble. Therefore, fixation in 100 % alcohol is required to demonstrate the crystals

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