Pharmacoeconomic review report : (Recordati Rare Diseases Canada Inc.). Cysteamine 3.8 mg/mL ophthalmic solution (Cystadrops) / Canadian Agency for Drugs and Technologies in Health.

Format:

Book

Author/Creator:

Canadian Agency for Drugs and Technologies in Health, author, issuing body.

Language:

English

Subjects (All):

Cystinosis.

Physical Description:

1 online resource (29 pages) : illustrations

Edition:

Version: final.

Place of Publication:

Ottawa (ON) : Canadian Agency for Drugs and Technologies in Health, 2019.

Summary:

Cystinosis is a rare, hereditary disease characterized by the accumulation of cystine crystals in all cells and tissues. Cysteine, an amino acid, oxidizes to form cystine, which accumulates in lysosomes unless transported out by cystinosin. Patients with cystinosis have mutations in the gene encoding cystinosin and there are three main forms of cystinosis.1 The two earliest manifestations of cystinosis are renal dysfunction leading to end-stage renal disease and accumulation of corneal cystine crystal deposits (CCCDs) leading to photophobia.1,2 The most severe form of cystinosis, infantile nephropathic cystinosis, makes up approximately 95% of cystinosis cases1,3 and typically results in renal Fanconi syndrome (involving renal tube dysfunction) by the first year of life and progressive loss of glomerular function with end-stage renal failure before the age of 10 if not treated.2 CCCDs are typically observable by 18 months of age and photophobia from corneal deposits appears in about 50% of patients from mid-childhood to adolescence.2 Juvenile or intermediate nephropathic cystinosis is diagnosed in late childhood or adolescence and is associated with a slower progression of symptoms than in infantile cystinosis.1,2 Ocular or non-nephrotic cystinosis is characterized by adult onset with CCCDs as the only manifestation.

Notes:

Description based on publisher supplied metadata and other sources.