Cystinosis Signs and Symptoms
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 GI 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
Possible complications of cystinosis include1,3,6
Eyes Photophobia Blindness
Brain Neurocognitive differences
Male reproductive organs Male infertility
Muscles Myopathy
Bones Rickets
Kidneys Fanconi syndrome Kidney failure
Pancreas Diabetes mellitus
Lungs Breathing problems
Throat Dysphagia
Thyroid Hypothyroidism
Understand How Cystinosis
May Harm the Kidneys
Learn the Progressive
Manifestations of Cystinosis
References
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