Cystine-Depleting Therapy
Cystine-depleting therapy (CDT) breaks cystine into cysteine and cysteine-cysteamine mixed disulfide, which can exit the lysosome independently of the cystinosin transporter and cause up to 95% decrease of cystine in cells.1,2
Two types of CDTs are necessary to control cystine levels1:
CDT works to lower cystine levels and may help limit or delay damage to the body.3-7 Treatment cannot correct the underlying systemic metabolic defect of cystinosis.8 Oral CDT does not remove cystine from the cornea thus requiring the use of cysteamine eye drops.9,10 Learn about a CDT option to help manage cystinosis.
Dialysis and Kidney Transplant
Management of cystinosis involves specific treatment with CDT and supportive therapies to address renal and extrarenal complications.2
Cystinosis causes damage throughout the body, but symptoms often present in the kidneys first.2,6 Most children develop end-stage renal disease (ESRD) and require a kidney transplant by 10 years of age when left untreated.11,12
A kidney transplant will address renal failure, but renal replacement therapy may be necessary until a new kidney is received.11,12
A kidney transplant may prolong survival but will not correct the underlying systemic metabolic defect of cystinosis.11,13 Cystine will continue to accumulate in other organs and may lead to hypothyroidism, pancreatic endocrine and exocrine dysfunction, various neurological abnormalities, and other comorbidities.13