33. Fanconi Syndrome
Definition
Fanconi syndrome is an autosomal recessive, inherited disorder characterized by pancytopenia, bone marrow hypoplasia, and patchy brown skin discolorations resulting from melanin deposits. The melanin deposits are associated with multiple anomalies of the musculoskeletal and genitourinary systems.
Incidence
A true estimate of the frequency of Fanconi syndrome is not available. This disorder develops in association with several conditions, either inherited or acquired.
Etiology
Fanconi syndrome can be inherited, secondary, or idiopathic. The idiopathic form does not have an identifiable cause. Some cases are inherited.
Causes of Fanconi Syndrome
• Cystinosis
• Drug ingestion (tetracycline toxicity, aminoglycosides, cisplatin, ifosfamide, 6-mercaptopurine, valproic acid)
• Dysproteinemias
• Galactosemia
• Glycogen storage disorders (e.g., Fanconi-Bickel syndrome∗)
∗See Appendix G: Rare Syndromes.
• Heavy metal exposure (cadmium, lead, mercury, platinum, uranium)
• Hereditary fructose intolerance
• Inborn error of amino acid and carbohydrate metabolism
• Lowe syndrome
• Mitochondrial cytopathies
• Type I tyrosinemia
• Wilson’s disease (see p. 355)
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