Fanconi syndrome is a rare kidney disease that causes a buildup of glucose, bicarbonate, potassium, phosphates and certain excess amino acids in the urine. In this disease there is also a loss of protein in the urine and the urine becomes stronger and more acidic.
Hereditary Fanconi syndrome causes genetic changes that are passed down through families. 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 amylosis can lead to the development of the disease.
- Fanconi syndrome is incurable and treatment consists mainly of replenishing substances lost in the urine.
- Indicated by the nephrologist.
Symptoms of Fanconi syndrome may include
Generally, the characteristics of hereditary Fanconi syndrome appear in childhood around age 5.
The diagnosis of Fanconi syndrome is based on symptoms, a blood test that reveals high acidity, and a urinalysis that shows excess glucose, phosphate, bicarbonate, uric acid, potassium, and sodium.
Treatment of Fanconi syndrome aims to supplement substances lost by individuals in the urine, for this, patients may need to take potassium, phosphate and vitamin D supplements, as well as sodium bicarbonate to neutralize blood acidosis.
In patients with severe renal impairment, a kidney transplant is indicated.