Fanconi syndrome / Proximal ( Type 2 ) Renal Tubular Acidosis -

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Fanconi syndrome / Proximal ( Type 2 ) Renal Tubular Acidosis - Pathology

Fanconi syndrome is a rare disorder characterized by the wasting of variable amounts of phosphate, glucose, amino acids, and bicarbonate by the proximal renal tubule.

The defect is associated with reduced ATP and Na+/K+ ATPase activity.
Causes of Fanconi syndrome include:
• Inborn errors of metabolism: cystinosis, galactosemia, fructose, tyrosinemia (the most common cause overall is cystinosis)
• X-linked syndromes: Lowe syndrome, Dent’s disease
• Metals: Wilson’s disease, heavy metal toxicity
• Medications: chemotherapy, immunosuppressants, gentamicin, tenofovir, expired tetracyclines

Signs and symptoms of acquired Fanconi syndrome that commonly prompt patients to seek care include:
• Polyuria - caused by loss of excessive amounts of solutes in the urine
• Polydipsia - caused by loss of excessive amounts of solutes in the urine
• Dehydration - caused by loss of excessive amounts of solutes in the urine
• Bone deformities - caused by urinary losses of calcium and phosphate
• Impaired growth - caused by disturbances in mineral and vitamin D metabolism

Rickets and osteomalacia may result from urinary loss of calcium.

The most striking physical exam finding associated with Fanconi syndrome is failure to thrive.
The diagnosis of Fanconi syndrome is made by detecting elevated levels of glucose, amino acids, and electrolytes in the urine.

Serum findings include:
• Hypokalemia
• Hypophosphatemia
• Metabolic acidosis

The treatment of Fanconi syndrome includes replacement of lost electrolytes and bicarbonate to correct the metabolic acidosis.

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