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Have you heard of cystinosis? What is it and how is it controlled?

2 doctors weighed in
Dr. Pedro Hernandez
Internal Medicine - Geriatrics
1 doctor agrees

In brief: Rare

Nephropathic cystinosis is an inherited (autosomal recessive) lysosomal storage disorder caused by defective transport of the Amino Acid cystine out of lysosomes.
The stored cystine is poorly soluble and crystallizes within the lysosomes of many cell types, leading to widespread tissue and organ damage. Go part 2.

In brief: Rare

Nephropathic cystinosis is an inherited (autosomal recessive) lysosomal storage disorder caused by defective transport of the Amino Acid cystine out of lysosomes.
The stored cystine is poorly soluble and crystallizes within the lysosomes of many cell types, leading to widespread tissue and organ damage. Go part 2.
Dr. Pedro Hernandez
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