Fanconi's Syndrome

Aka: Fanconi's Syndrome, Fanconi Syndrome

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II. Pathophysiology

  1. Deficient Renal Tubular excretion
  2. Results in
    1. Aminoaciduria
    2. Glycosuria
    3. Hypophosphatemia

III. Causes

  1. Hereditary
    1. Idiopathic (Autosomal Dominant)
    2. Dent Disease
      1. X-linked hypophosphatemic Rickets
      2. X-linked recessive Nephrolithiasis
    3. Cystinosis (Autosomal Recessive)
    4. Tyrosinemia type I (Autosomal Recessive)
      1. Resolves with Tyrosine, Phenylalanine restriction
    5. Galactosemia (Autosomal Recessive)
      1. Resolves with galactose restriction
    6. Hereditary Fructose Intolerance
      1. Resolves with fructose restriction
    7. Glycogen Storage Disease
    8. Wilson Disease (Autosomal Recessive)
    9. Cytochrome C Oxidase deficiency
    10. Oculocerebrorenal Syndrome of Lowe
  2. Acquired form
    1. Multiple Myeloma
    2. Nephrotic Syndrome
    3. Chronic tubulointerstitial nephritis
    4. Amyloidosis
    5. Renal Transplantation
    6. Malignancy
    7. Medications
      1. Cisplatin
      2. Aminoglycosides
      3. 6-Mercaptopurine
      4. Valproate
      5. Expired Tetracyclines
      6. Methyl-3-Chrome
      7. Ifosfamide
    8. Heavy Metals
      1. Cadmium
      2. Mercury
      3. Lead
      4. Uranium
      5. Platinum
    9. Chemicals
      1. Toluene
      2. Maleate
      3. Paraquat Poisoning (herbicide)
      4. Lysol

IV. Symptoms

  1. Children
    1. Polydipsia
    2. Malnutrition
    3. Increased susceptibility to infection
  2. Adults
    1. Pain in weight bearing joints
    2. Dehydration

V. Signs

  1. Children
    1. Growth Retardation
    2. Developmental Delay
    3. Bony deformities similar to Rickets
    4. Waddling Gait
    5. Pathologic Fractures
  2. Adults
    1. Osteomalacia
    2. Osteoporosis
    3. Pathologic Fractures

VI. Labs

  1. Urine
    1. Aminoaciduria (low molecular weight Proteinuria)
    2. Cystinuria
    3. Glycosuria
    4. Phosphaturia
  2. Metabolic Panel
    1. Hypokalemia
    2. Metabolic Acidosis
    3. Hypercalciuria

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