FANCONI SYNDROME

Course overview

FANCONI SYNDROME, NOT TO BE CONFUSED WITH FANCONI ANEMIA, IS A DEFECT OF THE PROXIMAL TUBULE THAT PREVENTS THE ABSORPTION OF ELECTROLYTES AND OTHER SUBSTANCES THAT ARE NORMALLY ABSORBED BY THE PROXIMAL TUBULE. FANCONI SYNDROME CAN OCCUR AS AN INHERITED OR ACQUIRED CONDITION. ADULTS WITH FANCONI SYNDROME TYPICALLY HAVE THE ACQUIRED TYPE, AND CHILDREN WITH THE SYNDROME TYPICALLY HAVE THE GENETIC TYPE. TREATMENT OUTCOMES LARGELY DEPENDENT ON THE PARTICULAR ETIOLOGY AND TYPICALLY INVOLVE ADDRESSING THE UNDERLYING CAUSE WHEN PRESENT, IN ADDITION TO CORRECTING DEFICIENCIES IN VOLUME STATUS, NUTRITION, AND/ OR ELECTROLYTES. THIS ACTIVITY REVIEWS THE PATHOPHYSIOLOGY, EVALUATION, AND MANAGEMENT OF FANCONI SYNDROME AND THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE CARE OF AFFECTED PATIENTS.