Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.

ABSTRACT:

Background

Recommendations on when to start enzyme replacement therapy (ERT) in children with Fabry disease (FD) differ between guidelines. In this study, kidney biopsies of a cohort of 14 untreated children and one treated child were analyzed for their morphologic changes to determine whether early initiation of ERT is indicated.

Methods

All pediatric FD patients (< 18 years old) diagnosed between 2003 and 2021 in our department who received a kidney biopsy were enrolled. Clinical symptoms; laboratory parameters regarding kidney function, such as eGFR, plasma urea, protein-creatinine, and albumin/creatinine ratio; and 14 kidney biopsies prior to ERT and one under treatment were retrospectively analyzed.

Results

A total of 14 patients were enrolled, including 9 male a

SUBMITTER: Avarappattu J 

PROVIDER: S-EPMC10673963 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature