Fanconi syndrome is a rare disorder that affects the kidney s proximal tubules, leading to impaired reabsorption of substances, including glucose, phosphate, electrolytes, bicarbonate, and amino acids. This results in excessive urinary losses and various biochemical abnormalities. This condition should not be confused with Fanconi anemia, which is a distinct genetic disorder that involves bone marrow failure and congenital anomalies. Fanconi syndrome may be inherited and is commonly seen in children with conditions such as cystinosis, or acquired in adults due to medications, toxins, or systemic diseases. Diagnosis involves urine and blood testing, revealing findings such as glycosuria with normal blood glucose, generalized aminoaciduria, hypophosphatemia, and metabolic acidosis. Advanced tests and genetic evaluation may help confirm underlying causes. Management focuses on identifying and treating the underlying etiology while providing supportive care to correct fluid, electrolyte, and acid-base imbalances. Therapies may include electrolyte replacement, alkali therapy, and disease-specific treatments, such as cysteamine for cystinosis. While supportive care improves quality of life, early diagnosis and targeted intervention are essential to prevent complications such as bone disease, growth failure, and progression to chronic kidney disease. This activity reviews the underlying mechanisms, clinical presentation, diagnostic strategies, and treatment options for Fanconi syndrome. This activity also emphasizes the importance of interprofessional collaboration among healthcare providers in effectively managing this complex condition.
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