Cystinuria

Cystinuria results in the formation of cystine stones. About 1-2% of all stones are composed of cystine.

Cystine accumulates within the lysosomes of most tissues, but particularly the kidneys. This is due to a defect of cystine transport across the lysosomal membrane.

There are two cystinosis phenotypes:

nephropathic and
non-nephropathic.

The common nephropathic form presents in the first year of life with failure to thrive. This results from the renal tubular Fanconi syndrome caused by cystine deposits in the kidney.

Renal damage progresses and visual impairment occurs as the result of cystine deposits in the retina and cornea. Renal transplantation relieves the kidney problems, but cystine accumulation continues to occur.

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Health Tip

Gout is a type of arthritis in which uric acid crystalline deposits form in the joints, causing them to become painful and swollen. The base of the big toe is the site most commonly affected. The symptoms of gout usually flare up quite quickly.

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