Fanconi syndrome medical therapy

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vahid Eidkhani, M.D.

Definitive treatment of Fanconi syndrome in most of the cases is the treatment of the underlying cause( which sometimes is not practical) and resolving the exposure to the contributor compounds(In exogenous causes/Tyrosinemia/ Galactosemia/ Hereditary fructose intolerance).

Symptomatic treatment involves replacement therapy which is the current mainstay of therapy. Replacement therapy regimen is depended on the severity of disease and the extent of urinary loss of each ingredient and therefore varies substantially among individuals^[1]. Correction of metabolic acidosis, dehydration, vitamin D, Na+, K+ and phosphate levels requires more attention^[2].

Some of the most important concepts of cause-specific medical therapies is described below.

• 1.1.1 Adult and Pediatric

• Cystine-lowering Agents
  • Preferred regimen (1): Cysteamine 60-90 mg/kg/day q.i.d. every 6 h
  • (specific instructions:  maximum dose should not exceed 1.95 g/m2/day/ <1 years: Safety and efficacy not established)
• Chelating agents
  • Preferred regimen (2): D-Penicillamine 30 mg/kg/day PO divided q12/q6
• Rehabilitating reabsorption function
  • Indomethacin 1–3 mg/kg/day q12/q8

• 2.1.1 Adult and pediatrics
• Removal of the copper:
  • Preferred regimen (1): D-Penicillamine 20 mg/kg PO q12h
  • Alterantive regimen (1):  Trientine hydrochloride 500 to 750 mg PO q12h/q6h
• Preventing reaccumulation:
  • Preferred regimen (1): Zinc acetate PO 50 mg q8h

• 2.1.1 Adult and pediatrics
•  Preferred regimen (1): NTBC 0.6-1 mg/kg/day

Template:WH Template:WS