Original ArticleCysteamine Toxicity in Patients with Cystinosis
Section snippets
Methods
Detailed information, including age at diagnosis of cystinosis, CTNS gene mutations, cysteamine dosage, white blood cell (WBC) cystine levels (measured in blood samples obtained 5-6 hours after the last cysteamine administration), adverse events and date of occurrence, further investigations, and follow-up, was collected from the patients’ medical records by their physicians. (All cysteamine doses mentioned hereinafter refer to the amount of cysteamine free-base that was administered,
Results
The Table presents clinical characteristics of the patients who experienced adverse events, along with detailed information on these adverse events, including neurologic symptoms, musculoskeletal weakness, skin striae primarily on the stretchable surfaces of the extremities, and bruise-like lesions of the elbows.
Discussion
We have reported some newly recognized side effects of cysteamine. In all of our patients, the skin lesions and neurologic symptoms diminished or disappeared after the cysteamine dosage was reduced. In 1 of the 2 patients with bone and muscular pain, these symptoms decreased in response to a cysteamine dose reduction. In patient 6, skin lesions relapsed after the cysteamine dose was increased. Based on these findings, we suggest that cysteamine plays a causative role in these symptoms, although
References (28)
- et al.
The evaluation and treatment of gastrointestinal disease in children with cystinosis receiving cysteamine
J Pediatr
(2003) - et al.
The origin of halitosis in cystinotic patients due to cysteamine treatment
Mol Genet Metab
(2007) - et al.
Cutaneous reactive angiomatoses: patterns and classification of reactive vascular proliferation
J Am Acad Dermatol
(2003) - et al.
The enzymatic oxidation of cysteamine to hypotaurine in the presence of sulfide
J Biol Chem
(1963) - et al.
Effect of penicillamine on new and pre-existing (3H) collagen in vivo
Biochim Biophys Acta
(1969) - et al.
Decreased collagen production in chronologically aged skin: roles of age-dependent alteration in fibroblast function and defective mechanical stimulation
Am J Pathol
(2006) A defect in the intramolecular and intermolecular cross-linking of collagen caused by penicillamine, I: metabolic and functional abnormalities in soft tissues
J Biol Chem
(1968)- et al.
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
Nat Genet
(1998) - et al.
Cystinosis: intracellular cystine depletion by aminothiols in vitro and in vivo
J Clin Invest
(1976) - et al.
Improved renal function in children with cystinosis treated with cysteamine
N Engl J Med
(1993)
Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis
J Clin Endocrinol Metab
Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy
Ann Intern Med
Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis
Pediatr Nephrol
Adverse reactions to oral cysteamine use in nephropathic cystinosis
Dev Pharmacol Ther
Cited by (0)
Supported by the Cystinosis Research Foundation. E.L. is supported by the Foundation for Scientific Research Flanders (grant 1801110N). The sponsors had no role in the study design; the collection, analysis and interpretation of data; the writing of the report; or the decision to submit the manuscript for publication. The authors declare no conflicts of interest.