Fanconi Syndrome

Fanconi syndrome is a defect of proximal tubule leading to malabsorption of various electrolytes and substances that are usually absorbed by the proximal tubule. It could be an inherited or acquired condition. This condition should not be confused with Fanconi anemia, which is a rare recessive disorder, characterized by pancytopenia, hypoplasia of the bone marrow, patchy brown discoloration of the integument due to melanin deposition, and associated with multiple congenital anomalies. Adults with Fanconi syndrome typically have the acquired type, and children with the syndrome typically have the genetic type. The ability to treat the condition depends on its particular etiology and typically involves addressing the underlying cause, if one exists, and correcting volumetric, nutritional, or electrolytic deficiencies. The definition of "Fanconi syndrome" implies a global defect in the tubule. Whatever solutes the tubule normally reabsorbs do not get reabsorbed adequately in a patient with this syndrome.