Tubule

Fanconi's Syndrome

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Fanconi's Syndrome, Fanconi Syndrome

Pathophysiology

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

Causes

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
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

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

Signs

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

Labs

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