Fanconi

Fanconi syndrome is a disorder of the kidney's proximal renal tubule that results in the excessive excretion of certain essential substances in the urine. It is named after the Swiss pediatrician Guido Fanconi, who first described the condition.

Symptoms and signs

The symptoms and signs of Fanconi syndrome can vary greatly. They may include excessive thirst and urination, dehydration, bone pain, rickets, and failure to thrive in children. In adults, symptoms may include fatigue, muscle weakness, and bone pain.

Causes

Fanconi syndrome can be caused by a variety of conditions, including genetic disorders, exposure to certain drugs or toxins, and certain diseases. Genetic disorders that can cause Fanconi syndrome include cystinosis, Wilson's disease, and Lowe syndrome. Drugs and toxins that can cause Fanconi syndrome include outdated tetracycline, heavy metals, and certain chemotherapy drugs. Diseases that can cause Fanconi syndrome include multiple myeloma, amyloidosis, and Sjögren's syndrome.

Diagnosis

The diagnosis of Fanconi syndrome is based on the presence of certain abnormalities in the urine, including the excessive excretion of glucose, amino acids, bicarbonate, and certain electrolytes. Additional tests may be performed to determine the underlying cause of the syndrome.

Treatment

The treatment of Fanconi syndrome depends on the underlying cause. In cases caused by genetic disorders, treatment may include the administration of certain vitamins and minerals to replace those lost in the urine. In cases caused by drugs or toxins, treatment may involve discontinuing the offending agent. In cases caused by diseases, treatment may involve addressing the underlying disease.

See also

• Renal tubular acidosis
• Cystinosis
• Lowe syndrome
• Multiple myeloma
• Amyloidosis
• Sjögren's syndrome

Fanconi Resources
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