From: Cystinosis: a review
 | Medication | Daily dose | Frequency | Remarks |
---|---|---|---|---|
Symptomatic treatment | ||||
Renal Fanconi syndrome | ||||
Polyuria | Â | Free water supply | Day and night | Special attention for sufficient hydration in case of fever, diarrhea and external heat |
Early tube feeding may be needed for water requirements | ||||
Malnutrition | high caloric intake | 130Â % of RDI | Â | Tube feeding can be needed in young infants |
Renal salt loosing | sodium citrate or sodium bicarbonate | Oral 2–10 mmol/kg | QID | Between meals |
Alkali losses | citrate or bicarbonate as sodium & potassium salts | Oral 5–15 mmol/kg | QID | Normal bicarbonate level (21–24 mmol/l) should be achieveda |
Potassium losses | potassium citrate or potassium chloride | Oral 2–10 mmol/kg | QID | Potassium level > 3 mmol/l should be achieveda |
Phosphate losses | sodium or potassium phosphate | Oral 30–60 mg elementary P/kg | QID | Normal age-related phosphate levels should be achieveda |
High doses of phosphate supplements can cause or aggravate nephrocalcinosis | ||||
Treatment of rickets | calcidiol | Oral 10–25 μg | QD | Follow-up serum calcium concentration to prevent hypercalcemia |
alpha-calcidol or calcitriol | Oral 0.04–0.08 μg/kg | |||
Copper deficiency | copper supplementation | no data is available in cystinosis |  | 1–10 mg/day depending on age and serum copper levels |
Chlorophyllin tablets that are used to mitigate halitosis contain 4Â mg of elemental copper per tablet | ||||
Difficult to control electrolyte losses and polyuria | indomethacin | Oral 1–3 mg/kg | BID | Follow-up serum creatinine |
Discontinue in case of dehydration | ||||
Concomitant use with ACE inhibitors is contra-indicated | ||||
Carnitine losses | L- carnitine | Oral 20–50 mg/kg | TID | Not proven effect on clinically relevant muscle health |
Proteinuria | ACE-inhibitors (enalapril) | Oral 0.10–0.25 mg/kg (for enalapril) | QD | Control serum creatinine and potassium administration at night to avoid hypotension complaints |
Concomitant use with Indomethacin is contra-indicated | ||||
Hormonal substitution | ||||
Hypothyroidism | levothyroxin | Oral | QD | Start by 25Â % of the recommended dose and increase to full dose in 4Â weeks |
<12 years:5 μg/kg | ||||
>12 years: 2–3 μg/kg | ||||
Adults: 1.7 μg/kg | ||||
Growth retardation | rhGH | SC 0.05Â mg/kg | QD | Early initiation when growth failure persists after optimal control of feeding, electrolytes and rickets |
Higher doses of phosphate supplementation may be needed | ||||
Glucose intolerance | insulin | SC (cfr endocrinology) | Â | Control by blood glucose |
Regular control of Hb A1C | ||||
Cysteamine treatment | ||||
Systemic administration | immediate release cysteamine bitartrate (Cystagon®) | 1.30–1.95 g/m2 | QID | Start at low dose (1/6 th of optimal dose), gradual increase over 6–8 weeks |
delayed release cysteamine bitartrate (Procysbi®) | Start with 80 % of the immediate-release form | BID | Gastrointestinal complaints: add proton pomp inhibitors | |
Skin lesions (striae, molluscoid tumor at elbows): dose reduction by 25–50 %, control for copper deficiency | ||||
Regular dosing of WBC cystine levels (children x4 per year, adults x1-2 per year)b | ||||
Corneal cystine crystals | cysteamine eye drops 0.5 % | topical application | 8–10 time daily | Yearly eye examination |
cysteamine eye gel (Cystadrops®) | QID | |||
Varia | ||||
Gastro-intestinal complaints | Proton pump inhibitors omeprazole | <10Â kg: 1- mg/kg | BID | Â |
10–20 kg: 10–20 mg | BID | |||
>20 kg: 20–40 mg | BID |