Prevalence and clinical manifestations of nephropathy in patients with Fabry disease

Aim

To study the clinical features of Fabry nephropathy and to evaluate the prevalence of chronic kidney disease (CKD) and outcomes among these patients.

Material and methods

Ninety five adult patients with definite Fabry disease were enrolled in the retrospective study. The stages of CKD were defined according to the KDIGO classification (2012) and the Russian Nephrology Society guidelines (2016). Glomerular filtration rate (GFR) was calculated using the CKD-EPI formula. Mainz Severity Score index (MSSI) and age-gender adjusted MSSI were calculated to determine the severity of Fabry disease.

Results

Renal involvement was found in 83 (87.4%) patients (60 males, median age of 39.8±11.9 years). Prevalence of kidney disease was higher in males than in females (93.8% and 74.2%, respectively, p=0.01). The first signs of renal involvement in males were revealed 10 years earlier than in females (p=0.01). The first detected symptom of renal impairment was usually proteinuria (50%). The majority of females (95.7%) had CKD 1-2 stages, while males had CKD 1-3 (53.3%) or 4-5 stages (46.7%). The contribution of renal score to general MSSI was higher among hemodialysis patients (р<0.0001). Outcomes included end-stage renal disease (n=27) and death (n=7).

Conclusion

CKD was one of the most frequent manifestations and was associated with the overall disease severity in the Russian cohort of patients with Fabry disease. A higher awareness of Fabry disease among nephrologists is essential for an earlier diagnosis.

Key words

Fabry disease, Fabry nephropathy, chronic kidney disease.