Fanconi syndrome is a rare disorder characterized by a malfunctioning of the proximal renal tubules in the kidneys, leading to impaired reabsorption of essential substances, such as glucose, amino acids, phosphate, bicarbonate, and electrolytes. This condition is named after the Swiss pediatrician Guido Fanconi, who first described it in the 1930s.
In individuals with Fanconi syndrome, the inability of the kidneys to properly reabsorb various substances results in their excessive excretion in the urine. This leads to significant losses and imbalances in the body's electrolytes, minerals, and other vital compounds. As a consequence, affected individuals may experience symptoms such as excessive thirst, excessive urination, dehydration, electrolyte imbalances (including low blood potassium levels), bone disorders, impaired growth, and muscle weakness.
Fanconi syndrome can be either inherited, which is usually due to genetic mutations affecting specific transport proteins in the renal tubules, or acquired as a result of other underlying conditions or exposures such as drug toxicity, infections, or certain metabolic disorders. Treatment for Fanconi syndrome aims to manage and correct the underlying cause, as well as providing supportive care to address the associated symptoms, such as replenishing lost electrolytes and maintaining proper hydration.
Overall, Fanconi syndrome is a complex renal disorder that disrupts the normal reabsorption of various substances in the kidneys, leading to significant imbalances and losses that can affect multiple organ systems in the body.
