Related Experiment Video
Updated: Dec 12, 2025
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.4K
Identification of patients with Fabry disease using routine pathology results: PATHFINDER (eGFR) study
Tim M Reynolds1, Karen L Tylee2, Kathryn L Booth2
1Clinical Chemistry, Queen's Hospital, Burton-on-Trent, UK.
International Journal of Clinical Practice
|August 11, 2020
Summary
Screening for Fabry disease (FD) in patients with reduced kidney function found one case in women, highlighting low yield for unidentified FD cases using estimated glomerular filtration rate alone.
Area of Science:
- Biochemistry
- Genetics
- Nephrology
Background:
- Fabry disease (FD) is a lysosomal storage disorder caused by α-galactosidase A deficiency.
- Previously considered X-linked recessive, FD is now recognized as a dominant trait with variable penetrance.
- The prevalence of FD, particularly in individuals with impaired renal function, remains unclear.
Purpose of the Study:
- To determine the prevalence of Fabry disease in patients with abnormal renal function.
- To assess the utility of routine laboratory databases for identifying undiagnosed FD cases.
Main Methods:
- Utilized electronic laboratory databases to identify patients with reduced estimated glomerular filtration rate (eGFR).
- Recalled 1084 patients for dried blood spot collection.
- Assayed α-galactosidase A activity and lyso-globotriaosylceramide (lyso-GL-3) concentrations in men and women.
Main Results:
- No FD cases were identified in 505 men screened.
- One heterozygous woman with reduced α-galactosidase A activity and elevated lyso-GL-3 was identified among 579 women.
- This individual was confirmed to be a relative of a known FD patient.
Conclusions:
- Pathology databases can contain valuable information for identifying inherited metabolic disorders.
- Biochemical screening based solely on reduced eGFR has a low detection rate for undiagnosed Fabry disease.
