Fanconi Renotubular Syndrome

Fanconi syndrome, De Toni-Fanconi syndrome


Type of disease: Rare conditions

Fanconi syndrome is a condition where the tubes of the kidneys do not function properly. The function of the kidney tubes is to reabsorb vitamins, minerals, and sugars back into the body to be reused. However, in Fanconi syndrome, the absorption does not occur and the nutrients go directly to the urine. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and bone pains. Diagnosis can be confirmed by looking for excess levels of certain nutrients in the urine. The most common cause of Fanconi sydrome in children is cystinosis (for more information, visit Cystinosis.), but other genetic or inherited defects that affect the body’s ability to break down certain compounds will also cause Fanconi syndrome. Fanconi syndrome may also develop later in life due to side effects from medication, lead poisoning, multiple myeloma or due to unknown causes. There is currently no cure for Fanconi syndrome, but treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the urine. Talk to your child’s pediatrician or appropriate specialists to discuss the best treatment plan. If Fanconi syndrome occurs as an adult, treatment varies dependent on the cause. Again, talk to your doctor or specialist if you or a family member is diagnosed with Fanconi syndrome.

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