Symptoms of cystinosis, including polyuria and polydipsia, are commonly present in otherwise healthy infants within the first year of life.1,2 The kidneys are one of the first and most seriously impacted organs.1,3 Other organs that may be affected in the first 6 to 18 months of life include the eyes, bones, and those comprising the gastrointestinal system.1,3,4
Cystine accumulation may cause harm to cells in the brain, thyroid, pancreas, muscles, throat, lungs, and male reproductive organs if left untreated.1,3,5
Eyes
Photophobia Blindness
Brain
Neurocognitive differences
Muscles
Myopathy
Bones
Rickets
Male reproductive organs
Male infertility
Pancreas
Diabetes mellitus
Kidneys
Fanconi syndrome Kidney failure
Lungs
Breathing problems
Throat
Dysphagia
Thyroid
Hypothyroidism
1. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347(2):111-121. 2. Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy.Ann Intern Med. 2007;147(4):242-250. 3. Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol. 2008;23(6):863-878. 4. Goodyer P. The history of cystinosis: lessons for clinical management. Int J Nephrol. 2011;2011:929456. 5. Langman CB, Barshop BA, Deschênes G, et al. Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney disease: improving global outcomes” (KDIGO) controversies conference. Kidney Int. 2016;89(6):1192-1203. 6. Cystinosis Research Network. Infantile nephropathic cystinosis: standards of care. Accessed April 2021. https://cystinosis.org/wp-content/uploads/2019/01/CRN_StandardsOfCare_FINAL-2.pdf
