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 Icon

Brain Neurocognitive differences

Male Reproduction

Male reproductive organs Male infertility

Muscles Icon

Muscles Myopathy

Bones Icon

Bones Rickets

Kidneys Icon

Kidneys Fanconi syndrome Kidney failure


Pancreas Diabetes mellitus

Lungs Icon

Lungs Breathing problems

Throat Icon

Throat Dysphagia


Thyroid Hypothyroidism

Understand How Cystinosis
May Harm the Kidneys

Review Renal Manifestations

Learn the Progressive
Manifestations of Cystinosis

Review the Multisystemic Complications

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.