Cystinosis, Fanconi Syndrome
Conditions
Keywords
Fanconi syndrome, cystinosis, rare disease, renal and genitourinary disorders
Brief summary
OBJECTIVES: I. Classify renal tubular defects using clinical and biochemical findings in patients with Fanconi syndrome and cystinosis.
Detailed description
PROTOCOL OUTLINE: Patients receive a clinical and biochemical evaluation, including a psychometric assessment and molecular, renal, and thyroid studies.
Interventions
None listed
Sponsors
University of California, San Diego
National Center for Research Resources (NCRR)
Eligibility
Sex/Gender
ALL
Age
0 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Inherited renal tubular defects, i.e., Fanconi syndrome * Fanconi syndrome due to cystinosis eligible
Outcome results
None listed