Tubule

Fanconi's Syndrome

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Fanconi's Syndrome, Fanconi Syndrome

  • Pathophysiology
  1. Deficient Renal Tubular excretion
  2. Results in
    1. Aminoaciduria
    2. Glycosuria
    3. Hypophosphatemia
  • 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
  • Symptoms
  1. Children
    1. Polydipsia
    2. Malnutrition
    3. Increased susceptibility to infection
  2. Adults
    1. Pain in weight bearing joints
    2. Dehydration
  • 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
  • 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