Purpose: This prospective, longitudinal study was designed to determine the natural history of Fabry disease (FD) in early pediatric patients across the disease spectrum.

Methods: In this observational study of children under 5 years of age with variants in the  gene, prospective phenotypic and urinary biomarker data were collected annually over 5 years.

Results: The study population included 40 participants (35 male, 5 female) with variants including 15 with classic pathogenic variants (CFD), 6 with nonclassic pathogenic variants (NFD), and 19 with a variant of uncertain significance. The most common first symptoms reported were in participants with CFD and included gastrointestinal symptoms (13/15), heat intolerance (13/15), reduced sweating after previously sweating normally (6/15), and neuropathic pain/uncomfortable feet/hands (3/15). Mapping symptom onset and progression reveals a consistent pattern of frequency and severity occurring in the first years of life and beginning at an average age of 23.4 months (range 11-32 months) in males with CFD. Participants with nonclassic pathogenic variants and variant of uncertain significance did not exhibit consistency in symptom onset or progression during the study period.

Conclusion: This study highlights the onset and pattern of progression of the earliest Fabry-related symptoms in children with CFD.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11613563PMC
http://dx.doi.org/10.1016/j.gimo.2024.101891DOI Listing

Publication Analysis

Top Keywords

symptom onset
12
pathogenic variants
12
onset progression
8
pediatric patients
8
nonclassic pathogenic
8
variant uncertain
8
uncertain significance
8
variants
6
study
5
prospective characterization
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!