SYMPTOMSSymptoms include polyuria and polydipsia, urinary losses (including electrolytes, glucose, phosphate, and amino acids), retarded growth and poor appetite.
Cystinosis patients are treated with a combination of therapies. The tubular dysfunction is managed by oral electrolyte supplements in the form of sodium and potasium salts. Because of their tubular dysfunction, affected individuals excrete excessive amounts of urine and must consume large amounts of water throughout the day and night. The tubular dysfunction causes urinary losses of phosphate which can lead to rickets. Rickets is treated with a combination of sodium or potassium phosphate and vitamin D. TREATMENTS
Aminothiol therapy depletes the lysosomes of cystine and is used to prolong glomerular function and improve growth. CystagonTM (cysteamine bitartrate) was the first aminothiol approved by the United States Food and Drug Administration (August 1994). ProcysbiTM is a delayed release formulation of cysteamine bitartate which was approved by the FDA in 2013. In addition to their renal disease, cystinosis patients often become hypothyroid and are treated with thyroxine.
Almost all cystinosis individuals experience retarded growth and fall below the third percentile for height. The growth improvement with aminothiol therapy usually allows the patient to maintain growth along a percentile, but does not usually aid in achieving "catch up" growth. Many children with cystinosis receive growth hormone and some have had improvements in height to well above the third percentile. There is evidence indomethacin increases appetite, decreases urine volume, decreases water consumption and improves growth in pretransplanted patients with cystinosis. (See references for additional info.)
Cystinosis Central | General Info.