Fanconi Syndrome Differential Diagnoses

Updated: Mar 16, 2023
  • Author: Sahar Fathallah-Shaykh, MD; Chief Editor: Craig B Langman, MD  more...
  • Print

Diagnostic Considerations

Differential diagnoses for the various forms of Fanconi syndrome are based on the patient's history and the presence of specific extrarenal manifestations. For instance, a history of pica is suggestive of lead intoxication, whereas the administration of gentamicin or of an anticancer drug, such as cisplatin or ifosfamide, is indicative of toxic injury of the renal tubule.

The age at which the child becomes symptomatic can provide a diagnostic clue. Some conditions such as fructose intolerance or galactosemia may become evident during the first few days of life if the infant is exposed to the noxious nutrient. Symptoms of nephropathic cystinosis become apparent in children older than 6 months; symptoms of Wilson disease usually appear in persons older than 10 years.

Gitelman syndrome can rarely present with proximal tubular dysfunction that could be related to severe hypokalemia. [23]