Fanconi Syndrome is a rare disease of the kidneys that leads to the accumulation of glucose, bicarbonate, potassium, phosphates and certain excess amino acids in the urine. In this disease there is also loss of protein in the urine and the urine becomes stronger and more acidic.
Hereditary Fanconi Syndrome causes genetic changes that are passed on from father to son. In the case of acquired Fanconi Syndrome, ingestion of heavy metals, such as lead, ingestion of expired antibiotics, vitamin D deficiency, kidney transplantation, multiple myeloma or amyloidosis can lead to the development of the disease.
Fanconi syndrome has no cure and its treatment consists mainly of replacing the substances lost in the urine, indicated by the nephrologist.
Symptoms of Fanconi Syndrome
Symptoms of Fanconi Syndrome can be:
- Urinating a lot of urine; Strong and acidic urine; Very thirsty; Dehydration; Short stature; High acidity in the blood; Weakness; Pain in the bones; Coffee-milk-colored skin stains; Absence or defect in the thumbs;
Generally, the characteristics of hereditary Fanconi Syndrome appear in childhood around 5 years of age.
The diagnosis of Fanconi Syndrome is based on the symptoms, a blood test that reveals high acidity and a urine test that shows excess glucose, phosphate, bicarbonate, uric acid, potassium and sodium.
Treatment of Fanconi Syndrome
The treatment of Fanconi Syndrome aims to supplement the substances lost by individuals in the urine. For this, it may be necessary for patients to take potassium, phosphate and vitamin D supplementation, as well as sodium bicarbonate to neutralize blood acidosis.
In patients with severe renal failure, kidney transplantation is indicated.
Useful links:
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Kidney Transplantation
