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nephropathic cystinosis

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nephropathic cystinosis,
one of the types of cystinosis that involves kidney damage and ophthalmic symptoms.

nephropathic cystinosis
An AR lysosomal storage disease characterized by early-onset renal tubular Fanconi's syndrome, progressive photophobia, and renal failure severe enough to require either hemodialysis or transplantation by age 10, caused by defective trans-lysosomal membrane transport of cystine, resulting in tissue deposition of cystine with corneal erosions, DM, neurologic deterioration Clinical Dehydration, acidosis, vomiting, electrolyte imbalance, hypophosphatemic rickets, FTT Treatment β-mercaptoethylamine–aminothiol cysteamine to deplete intracellular stores and dissolve tissue crystals, which improves growth and delays renal failure. See Salla disease.


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