Cystinosis (Fanconi’s Syndrome)

Cystinosis(Fanconi’s Syndrome)
What is it?
*Heredity disorder of amino acid metabolism, fructose intolerance,
-may be caused by use of heavy metals, chemical agents, amyloidosis,
Vitamin D deficiency, kidney transplantation, multiple myeloma
*Taking outdated tetracycline (antibiotic)
*Cystinosis- occurs when cystine crystals are deposited throughout the body
*Infantile form leads to renal disease
*Neurological symptoms- toxic accumulations of copper in kidney, brain
*Can be caused by lead poisoning
*Rare disorder of tubule function- excessive amounts of glucose, phosphates,
bicarbonate, amino acids in the urine, Na (sodium), potassium (K)
Signs and Symptoms:
*Child secretes large amounts of urine
-weakness, bone pain
-cannot be cured
What can I do?
*See Physician- discuss prevention of bone demineralization, correct hypokalemia,
adapt to swallowing dysfunction, supplementation of Vitamin D, calcium,
-Na (Sodium), K (Potassium) replacements
-correct acidosis
-fluid and electrolyte imbalances
-consistency changes in liquids, solids as needed
*See FFF RD in line or meet with RD for information on Na, K