Kidney Week

Abstract: SA-PO0628

Physical Fitness and Physical Function in Patients with Fabry Disease: A Cross-Sectional Multicenter Study

Session Information

• Monogenic Kidney Diseases: Tubular and Other
  November 08, 2025 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1201 Genetic Diseases of the Kidneys: Monogenic Kidney Diseases

Authors

• Battaglia, Yuri, Universita degli Studi di Verona, Verona, Veneto, Italy

Yuri Battaglia, MD, PhD

• Baciga, Federica, Universita degli Studi di Verona, Verona, Veneto, Italy

Federica Baciga

• Gugelmo, Giorgia, Universita degli Studi di Padova, Padua, Veneto, Italy

Giorgia Gugelmo

• Duregon, Federica, Universita degli Studi di Padova, Padua, Veneto, Italy

Federica Duregon, MSc

• Cominacini, Mattia Giulia, Universita degli Studi di Verona, Verona, Veneto, Italy

Mattia Giulia Cominacini, MD, RPh

• Sponchiado, Sara, Universita degli Studi di Padova, Padua, Veneto, Italy

Sara Sponchiado

• Lenzini, Livia, Universita degli Studi di Padova, Padua, Veneto, Italy

Livia Lenzini, PhD

• Marchi, Giacomo, Universita degli Studi di Verona, Verona, Veneto, Italy

Giacomo Marchi, MD

• Vitturi, Nicola, Universita degli Studi di Padova, Padua, Veneto, Italy

Nicola Vitturi, DrMed

Background

Fabry Disease(FD)is X-linked disorder that affects musculoskeletal system.However,physical status remains poorly characterized.This multicenter cross-sectional study aimed to evaluate physical fitness(PFI)and physical function(PFU)in FD patients, and their relationship with sex,FD phenotype,and enzyme replacement therapy(ERT)or chaperone.

Methods

Adult FD patients were screened.Demographic and laboratory data were collected.PFI was assessed by cardiorespiratory capacity(peak oxygen uptake[VO₂peak]from cardiopulmonary exercise testing[CPET])and body composition(Fat-Free Mass Index[FFMI]and Phase Angle[PA]from multi-frequency bioelectrical impedance analysis [BIA]).PFU was evaluated using physical performance tests(handgrip strength[HG]and 30-second chair-stand[30STS]),strength tests(isometric thigh extensor and isokinetic knee strength),and fatigue questionnaire.

Results

42 FD patients were enrolled(Table1).CPET revealed significant sex- and phenotype-related differences.VO₂peak<85% predicted was more prevalent in classic patients(53.8%)vs. late-onset/VUS(11.5%;p<0.01).Classic patients had lower FFMI than late-onset/VUS(16.8±1.0 vs. 18.6±2.1 kg/m²; p=0.01).PA was lower in treated males(4.8±1.0°)vs. untreated(7.6±0.9°;p=0.04)and positively correlated with VO₂peak(r=0.879, p=0.01).Compared to population references,74.3%of classic males scored below 50th percentile in HG(26.1±7.8 kg)and 60.9%were below predicted 30STS values(12.4±4.3 reps).Fatigue scores were higher in classic and treated patients compared to late-onset/VUS(p=0.05)and untreated(p=0.02).

Conclusion

Our findings demonstrate that classic phenotype FD patients,particularly males,were associated with reduced exercise capacity and physical performance.

Digital Object Identifier (DOI)

• doi: 10.1681/ASN.2025xe4zy7qq