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Rare Diseases 2023

SíFanconi syndrome: what é, symptoms and treatment

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SíFanconi syndrome: what é, symptoms and treatment
SíFanconi syndrome: what é, symptoms and treatment

Fanconi syndrome is a rare disease of the kidneys that causes 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 have a stronger and more acidic smell.

Inherited Fanconi syndrome is caused by genetic changes that are passed from parent to child. In rarer cases, Fanconi syndrome can be acquired, that is, it can arise in people who did not have the syndrome, mainly due to ingestion of heavy metals, ingestion of antibiotics with an expired expiration date or due to some he alth problems, such as vitamin D deficiency, kidney transplantation, multiple myeloma, or amyloidosis.

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

Main symptoms

The main symptoms of Fanconi syndrome include:

  • Urinating large amounts of urine;
  • Strong-smelling urine;
  • Very thirsty;
  • Dehydration;
  • Short stature;
  • Weakness;
  • Bone pain;
  • CafĂ©-au-lait spots on the skin;
  • Absence or defect in thumbs.

Because it is a syndrome usually with genetic causes, these characteristics tend to appear during childhood, around 5 years old.

How to confirm the diagnosis

The diagnosis of Fanconi Syndrome is made based on symptoms, a blood test, and a urinalysis 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 recommends taking supplements that contain 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 substances that are lost in the urine. Check out a list of foods rich in vitamin D and foods rich in potassium.

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

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