Fanconi syndrome can be inherited (passed on from the parents to a child) or acquired (develop in later life).

Most cases of Fanconi syndrome in children are inherited and occur with other conditions such as Cystinosis, Dent Disease or Lowe Syndrome. Inherited Fanconi syndrome is caused by a genetic mutation or ‘spelling mistake’ in the genes that the body uses to make the tubules.

Fanconi syndrome can also develop as a result of a reaction to some medications including certain types of chemotherapy medications.

Both types of Fanconi syndrome affect the kidneys’ tubules and cause them not to work as well as they should do.

The tubules help to balance the amounts of water, salts and minerals (electrolytes)in the body. They control how much of these substances stays in your child’s blood to keep their body healthy and how much is lost in their urine (wee).

Electrolytes help to keep your child’s muscles and heart working properly, keep their bones strong and help with their brain function.

When the tubules do not work as they should do, the balance of water and electrolytes in the body is affected. Your child may lose too much water and electrocytes in their urine or keep more than they need. Both types of imbalances can affect your child’s health.

In Fanconi syndrome your child loses too much phosphate, glucose, protein, water and bicarbonate (a substance that controls how much acid is in the blood) in their urine. The loss of bicarbonate causes acid to build up in your child's blood.

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