Characterization of Individuals with Fanconi Syndrome

What we are studying

The purpose of this research study is to understand the changes that occur in individuals who have Fanconi Syndrome and identify the cause of the disease. Individuals with Fanconi Syndrome may have problems with leaking of calcium or phosphate from the kidneys into the urine. This can cause them to be short, have curved legs, get kidney stones and/or have kidney disease. This disease tends to run in families. The study will identify individuals who have Fanconi Syndrome, try to identify the genetic cause of the disease in each family studied and identify factors that are associated with the disease getting worse over time.

Who is Eligible

  • Genders:
    • Men
    • Women
  • Races:
    • White
    • African American
    • Asian
    • American Indian or Alaska Native
    • Native Hawaiian or Pacific Islander
    • Other
  • All Ethnicities
  • Ages 6+

Eligibility Criteria

  • Individuals belonging to a family in which there is evidence of inherited Fanconi Syndrome

What is involved

  • 1 study visit



Contact Information

Study Coordinator
Victoria Robins

Disclaimer: The information on this website is for general informational purposes only and SHOULD NOT be relied upon as a substitute for sound professional medical advice, evaluation or care from your physician or other qualified health care provider.