Fanconi syndrome: what it is, symptoms and treatment

Fanconi syndrome is a rare disease of the kidneys that causes the excessive elimination of glucose, bicarbonate, potassium, phosphates and certain amino acids in the urine. In this disease there is also loss of protein in the urine and the urine may smell stronger and more acidic.

Hereditary Fanconi syndrome is caused by genetic changes that are passed on from father to son.In more rare cases, Fanconi syndrome can be acquired, that is, it can appear in people who did not have the syndrome, mainly due to the ingestion of heavy metals, ingestion of expired antibiotics or due to some health problems, such as vitamin D deficiency, kidney transplantation, multiple myeloma or amyloidosis.

This syndrome has no cure and its treatment consists mainly of replacing the substances lost in the urine.

Main symptoms

The main symptoms of Fanconi syndrome include:

• Urinating large amounts of urine;
• Strong-smelling urine;
• Very thirst;
• Dehydration;
• Short;
• Weakness;
• Bone pain;
• Coffee-milk colored patches on the skin;
• Absence or defect in the thumbs.

As it is a syndrome usually caused by genetics, these characteristics tend to appear during childhood, around 5 years of age.

How to confirm the diagnosis

The diagnosis of Fanconi Syndrome is made based on the symptoms, blood test and urine test that shows excess glucose, phosphate, bicarbonate, uric acid, potassium and sodium.

How the treatment is done

The treatment of Fanconi Syndrome aims to supplement the substances that are lost in the urine. For this, the doctor usually indicates the intake of supplements containing potassium, phosphate and vitamin D, as well as sodium bicarbonate to neutralize blood acidosis.

It is also advised that the diet be richer in foods rich in the substances that are lost in the urine. Check out a list of foods rich in vitamin D and foods rich in potassium.

In the most severe cases, in which there is also renal failure, hemodialysis and even kidney transplantation may be indicated.

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